Human (GRCh38.p14)
Description

BLM RecQ like helicase [Source:HGNC Symbol;Acc:HGNC:1058]

Gene Synonyms

BS, RECQ2, RECQL3

Location
About this transcript

This transcript has 14 exons, is associated with 22856 variant alleles and maps to 331 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355112.8BLM-20152401417aaENSP00000347232.3
 
Protein coding
CCDS10363P54132 NM_000057.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000680772.1BLM-21250331417aaENSP00000506117.1
 
Protein coding
CCDS10363P54132 -GENCODE basicAPPRIS P2
ENST00000648453.1BLM-21145221386aaENSP00000497646.1
 
Protein coding
A0A3B3IT82 -GENCODE basicAPPRIS ALT2
ENST00000681142.1BLM-21342701372aaENSP00000506682.1
 
Protein coding
A0A7P0TBM9 -GENCODE basicAPPRIS ALT2
ENST00000560509.5BLM-20839661286aaENSP00000454158.1
 
Protein coding
CCDS73782H0YNU5 -GENCODE basicTSL:1
ENST00000559724.5BLM-2064510413aaENSP00000453359.1
 
Nonsense mediated decay
H0YLV8 -TSL:1
ENST00000560136.5BLM-2072023No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000560821.1BLM-2101024No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000559282.1BLM-204866No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000558599.1BLM-202577No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000559426.5BLM-205533No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000560559.2BLM-2092967No protein-
 
Retained intron
--TSL:3
ENST00000558825.5BLM-2031683No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 14, Coding exons: 0, Transcript length: 2,023 bps,

Transcript Support Level (TSL)

TSL:5

Version

ENST00000560136.5

Type

Protein coding CDS not defined

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.