Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358952_19358955delinsTAAG , CM000685.2:g.19358952_19358955delinsTAAG	GRCh38
NC_000023.10:g.19377070_19377073delinsTAAG , CM000685.1:g.19377070_19377073delinsTAAG	GRCh37
NC_000023.9:g.19286991_19286994delinsTAAG	NCBI36
NG_016781.1:g.20060_20063delinsTAAG
NG_021184.1:g.161307_161310delinsCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.957_960delinsTAAG	ENSP00000348062.6:p.Ser319=
ENST00000379805.4:c.628_631delinsTAAG	ENSP00000369133.3:n.628_631delinsTAAG
ENST00000417819.6:c.1020_1023delinsTAAG	ENSP00000404616.2:p.Ser340=
ENST00000423505.6:c.1050_1053delinsTAAG	ENSP00000406473.2:p.Ser350=
ENST00000481733.2:n.731_734delinsTAAG
ENST00000696704.1:c.268_271delinsTAAG	ENSP00000512823.1:n.268_271delinsTAAG
ENST00000696705.1:c.391_394delinsTAAG	ENSP00000512824.1:n.391_394delinsTAAG
ENST00000422285.7:c.936_939delinsTAAG MANE Select	ENSP00000394382.2:p.Ser312=
ENST00000379804.1:c.93_96delinsTAAG	ENSP00000369132.1:p.Ser31=
ENST00000379806.9:c.1050_1053delinsTAAG	ENSP00000369134.5:p.Ser350=
ENST00000422285.6:c.936_939delinsTAAG	ENSP00000394382.2:p.Ser312=
ENST00000478795.1:n.375_378delinsTAAG
ENST00000481733.1:n.364_367delinsTAAG
ENST00000540249.5:c.843_846delinsTAAG	ENSP00000440761.1:p.Ser281=
ENST00000545074.5:c.957_960delinsTAAG	ENSP00000438550.1:p.Ser319=
NM_000284.3:c.936_939delinsTAAG	NP_000275.1:p.Ser312=
NM_001173454.1:c.1050_1053delinsTAAG	NP_001166925.1:p.Ser350=
NM_001173455.1:c.957_960delinsTAAG	NP_001166926.1:p.Ser319=
NM_001173456.1:c.843_846delinsTAAG	NP_001166927.1:p.Ser281=
XM_011545531.1:c.1071_1074delinsTAAG	XP_011543833.1:p.Ser357=
XM_011545532.1:c.978_981delinsTAAG	XP_011543834.1:p.Ser326=
XM_017029574.2:c.957_960delinsTAAG	XP_016885063.1:p.Ser319=
NM_000284.4:c.936_939delinsTAAG MANE Select	NP_000275.1:p.Ser312=
NM_001173454.2:c.1050_1053delinsTAAG	NP_001166925.1:p.Ser350=
NM_001173455.2:c.957_960delinsTAAG	NP_001166926.1:p.Ser319=
NM_001173456.2:c.843_846delinsTAAG	NP_001166927.1:p.Ser281=