Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
TAT/-
Location

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

Most severe consequence
Clinical significance

Synonyms

LSDB 15506

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

16:g.3243411_3243413delTAT
ENST00000538326.4:c.*699_*701delATA
ENST00000621655.1:c.*375_*377delATA
ENST00000576315.4:c.*591_*593delATA
ENST00000219596.4:c.2074_2076delATA
ENSP00000219596.1:p.Ile692del
ENST00000536980.4:c.*350_*352delATA
ENST00000339854.7:c.1534_1536delATA
ENSP00000339639.4:p.Ile512del
ENST00000536379.4:c.1441_1443delATA
ENSP00000445079.1:p.Ile481del
ENST00000541159.4:c.*278_*280delATA
ENST00000570511.4:c.*558_*560delATA
ENST00000574583.4:c.*558_*560delATA
ENST00000542898.4:c.*350_*352delATA
ENST00000572244.4:c.*458_*460delATA
ENST00000537682.4:c.*350_*352delATA
ENST00000539145.4:c.*707_*709delATA
LRG_190:g.18215_18217delATA
LRG_190t1:c.2074_2076delATA
LRG_190p1:p.Ile692del

About this variant

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

Variation displays