Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105470_11105474delinsCGTGT , CM000681.2:g.11105470_11105474delinsCGTGT	GRCh38
NC_000019.9:g.11216146_11216150delinsCGTGT , CM000681.1:g.11216146_11216150delinsCGTGT	GRCh37
NC_000019.8:g.11077146_11077150delinsCGTGT	NCBI36
NG_009060.1:g.21090_21094delinsCGTGT , LRG_274:g.21090_21094delinsCGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.822_826delinsCGTGT	ENSP00000252444.6:p.Tyr274=
ENST00000559340.2:c.564_568delinsCGTGT	ENSP00000453696.2:p.Tyr188=
ENST00000560467.2:c.564_568delinsCGTGT	ENSP00000453513.2:p.Tyr188=
ENST00000558518.6:c.564_568delinsCGTGT MANE Select	ENSP00000454071.1:p.Tyr188=
ENST00000252444.9:c.818_822delinsCGTGT
ENST00000455727.6:c.314-1922_314-1918delinsCGTGT	ENSP00000397829.2:n.314-1922_314-1918delinsCGTGT
ENST00000535915.5:c.441_445delinsCGTGT	ENSP00000440520.1:p.Tyr147=
ENST00000545707.5:c.314-1095_314-1091delinsCGTGT	ENSP00000437639.1:n.314-1095_314-1091delinsCGTGT
ENST00000557933.5:c.564_568delinsCGTGT	ENSP00000453557.1:p.Tyr188=
ENST00000558013.5:c.564_568delinsCGTGT	ENSP00000453346.1:p.Tyr188=
ENST00000558518.5:c.564_568delinsCGTGT	ENSP00000454071.1:p.Tyr188=
ENST00000560467.1:c.164_168delinsCGTGT
NM_000527.4:c.564_568delinsCGTGT , LRG_274t1:c.564_568delinsCGTGT	NP_000518.1:p.Tyr188=
NM_001195798.1:c.564_568delinsCGTGT	NP_001182727.1:p.Tyr188=
NM_001195799.1:c.441_445delinsCGTGT	NP_001182728.1:p.Tyr147=
NM_001195800.1:c.314-1922_314-1918delinsCGTGT	NP_001182729.1:n.314-1922_314-1918delinsCGTGT
NM_001195803.1:c.314-1095_314-1091delinsCGTGT	NP_001182732.1:n.314-1095_314-1091delinsCGTGT
XM_011528010.1:c.564_568delinsCGTGT	XP_011526312.1:p.Tyr188=
XM_011528011.1:c.314-1095_314-1091delinsCGTGT	XP_011526313.1:n.314-1095_314-1091delinsCGTGT
XR_244074.2:n.714_718delinsCGTGT
XM_011528010.2:c.564_568delinsCGTGT	XP_011526312.1:p.Tyr188=
XR_001753685.2:n.681_685delinsCGTGT
XR_001753686.2:n.681_685delinsCGTGT
NM_000527.5:c.564_568delinsCGTGT MANE Select	NP_000518.1:p.Tyr188=
NM_001195798.2:c.564_568delinsCGTGT	NP_001182727.1:p.Tyr188=
NM_001195799.2:c.441_445delinsCGTGT	NP_001182728.1:p.Tyr147=
NM_001195800.2:c.314-1922_314-1918delinsCGTGT	NP_001182729.1:n.314-1922_314-1918delinsCGTGT
NM_001195803.2:c.314-1095_314-1091delinsCGTGT	NP_001182732.1:n.314-1095_314-1091delinsCGTGT