Human (GRCh38.p14)
Description

nibrin [Source:HGNC Symbol;Acc:HGNC:7652]

Gene Synonyms

AT-V1, AT-V2, ATV, NBS, NBS1

Location
About this transcript

This transcript has 16 exons, is annotated with 33 domains and features, is associated with 24063 variant alleles and maps to 718 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000265433.8NBN-2014622754aaENSP00000265433.4
 
Protein coding
CCDS6249O60934 NM_002485.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000697298.1NBN-2187186672aaENSP00000513234.1
 
Protein coding
CCDS43753A0A0C4DG07 -GENCODE basic
ENST00000697293.1NBN-2137028771aaENSP00000513230.1
 
Protein coding
A0A8V8TM80 -GENCODE basic
ENST00000517337.2NBN-2066895672aaENSP00000429971.2
 
Protein coding
CCDS43753A0A0C4DG07 -GENCODE basicTSL:4
ENST00000697299.1NBN-2196819672aaENSP00000513235.1
 
Protein coding
CCDS43753A0A0C4DG07 -GENCODE basic
ENST00000697304.1NBN-2246645650aaENSP00000513240.1
 
Protein coding
A0A8V8TM88 -GENCODE basic
ENST00000697308.1NBN-2285900731aaENSP00000513243.1
 
Protein coding
A0A8V8TKW6 -GENCODE basic
ENST00000697307.1NBN-2275744679aaENSP00000513242.1
 
Protein coding
A0A8V8TMH1 -GENCODE basic
ENST00000523444.2NBN-2104724672aaENSP00000428252.2
 
Protein coding
CCDS43753A0A0C4DG07 -GENCODE basicTSL:4
ENST00000409330.5NBN-2034523672aaENSP00000386924.1
 
Protein coding
CCDS43753A0A0C4DG07 -GENCODE basicTSL:5
ENST00000697309.1NBN-2294409782aaENSP00000513244.1
 
Protein coding
A0A8V8TKY5 -GENCODE basic
ENST00000697310.1NBN-2303950754aaENSP00000513245.1
 
Protein coding
CCDS6249O60934 -GENCODE basicAPPRIS P1
ENST00000697292.1NBN-2123251754aaENSP00000513229.1
 
Protein coding
CCDS6249O60934 -GENCODE basicAPPRIS P1
ENST00000613033.1NBN-211786124aaENSP00000484487.1
 
Protein coding
A0A087X1V5 -TSL:3CDS 5' incomplete
ENST00000517772.5NBN-207701164aaENSP00000428717.1
 
Protein coding
E5RGR7 -TSL:3CDS 3' incomplete
ENST00000519426.5NBN-208535159aaENSP00000430983.1
 
Protein coding
E5RGU1 -TSL:4CDS 3' incomplete
ENST00000697300.1NBN-220709379aaENSP00000513236.1
 
Nonsense mediated decay
A0A8V8TL95 --
ENST00000697303.1NBN-2237043161aaENSP00000513239.1
 
Nonsense mediated decay
A0A8V8TKY0 --
ENST00000697306.1NBN-2267002161aaENSP00000513241.1
 
Nonsense mediated decay
A0A8V8TL98 --
ENST00000697301.1NBN-221696263aaENSP00000513237.1
 
Nonsense mediated decay
A0A8V8TMG6 --
ENST00000697294.1NBN-2146933145aaENSP00000513231.1
 
Nonsense mediated decay
A0A8V8TL91 --
ENST00000697302.1NBN-2226912145aaENSP00000513238.1
 
Nonsense mediated decay
A0A8V8TL91 --
ENST00000697296.1NBN-216680260aaENSP00000513233.1
 
Nonsense mediated decay
A0A8V8TKV9 --
ENST00000697295.1NBN-215638747aaENSP00000513232.1
 
Nonsense mediated decay
A0A8V8TMG0 --
ENST00000396252.6NBN-202490758aaENSP00000379551.2
 
Nonsense mediated decay
E2QRP0 -TSL:5
ENST00000697311.1NBN-2314896732aaENSP00000513246.1
 
Nonsense mediated decay
A0A8V8TM94 --
ENST00000697312.1NBN-2324301165aaENSP00000513247.1
 
Nonsense mediated decay
A0A8V8TLA3 --
ENST00000697315.1NBN-2352559734aaENSP00000513248.1
 
Nonsense mediated decay
A0A8V8TMH6 --
ENST00000697297.1NBN-2178632No protein-
 
Retained intron
---
ENST00000494804.2NBN-2058149No protein-
 
Retained intron
--TSL:3
ENST00000697305.1NBN-2256126No protein-
 
Retained intron
---
ENST00000474821.2NBN-2045661No protein-
 
Retained intron
--TSL:2
ENST00000697313.1NBN-2334246No protein-
 
Retained intron
---
ENST00000697314.1NBN-2343743No protein-
 
Retained intron
---
ENST00000697316.1NBN-2363227No protein-
 
Retained intron
---
ENST00000697317.1NBN-2372338No protein-
 
Retained intron
---
ENST00000697318.1NBN-2382125No protein-
 
Retained intron
---
ENST00000520325.1NBN-209494No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 16, Coding exons: 16, Transcript length: 4,622 bps, Translation length: 754 residues

MANE

This MANE Select transcript contains ENSP00000265433 and matches to NM_002485.5 and NP_002476.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60934

CCDS

This transcript is a member of the Human CCDS set: CCDS6249

Transcript Support Level (TSL)

TSL:1

Version

ENST00000265433.8

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Annotation Attributes

RP supported TIS [Definitions]

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.