Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
TAT/-
Location

Chromosome 16:3243411-3243413 (forward strand) | View in location tab

Most severe consequence
 
Inframe deletion
Evidence status

Clinical significance

Synonyms

LSDB 15506

This variant has 21 HGVS names - click the plus to show

16:g.3243411_3243413delTAT
ENST00000538326.5:c.*701_*703delAAT
ENST00000621655.1:c.*377_*379delAAT
ENST00000536980.5:c.*352_*354delAAT
ENST00000339854.8:c.1536_1538delAAT
ENSP00000339639.4:p.Ile512del
ENST00000541159.5:c.*280_*282delAAT
ENST00000570511.5:c.*560_*562delAAT
ENST00000574583.5:c.*560_*562delAAT
ENST00000572244.5:c.*460_*462delAAT
ENST00000537682.5:c.*352_*354delAAT
ENST00000219596.5:c.2076_2078delAAT
ENSP00000219596.1:p.Ile692del
ENST00000576315.5:c.*593_*595delAAT
ENST00000536379.5:c.1443_1445delAAT
ENSP00000445079.1:p.Ile481del
ENST00000542898.5:c.*352_*354delAAT
ENST00000539145.5:c.*709_*711delAAT
LRG_190:g.18215_18217delATA
LRG_190t1:c.2076_2078delAAT
LRG_190p1:p.Ile692del

About this variant

This variant overlaps 16 transcripts and is associated with 2 phenotypes.

Variant displays