Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105550_11105552delinsGCT , CM000681.2:g.11105550_11105552delinsGCT	GRCh38
NC_000019.9:g.11216226_11216228delinsGCT , CM000681.1:g.11216226_11216228delinsGCT	GRCh37
NC_000019.8:g.11077226_11077228delinsGCT	NCBI36
NG_009060.1:g.21170_21172delinsGCT , LRG_274:g.21170_21172delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.902_904delinsGCT	ENSP00000252444.6:p.Arg301=
ENST00000559340.2:c.644_646delinsGCT	ENSP00000453696.2:p.Arg215=
ENST00000560467.2:c.644_646delinsGCT	ENSP00000453513.2:p.Arg215=
ENST00000558518.6:c.644_646delinsGCT MANE Select	ENSP00000454071.1:p.Arg215=
ENST00000252444.9:c.898_900delinsGCT
ENST00000455727.6:c.314-1842_314-1840delinsGCT	ENSP00000397829.2:n.314-1842_314-1840delinsGCT
ENST00000535915.5:c.521_523delinsGCT	ENSP00000440520.1:p.Arg174=
ENST00000545707.5:c.314-1015_314-1013delinsGCT	ENSP00000437639.1:n.314-1015_314-1013delinsGCT
ENST00000557933.5:c.644_646delinsGCT	ENSP00000453557.1:p.Arg215=
ENST00000558013.5:c.644_646delinsGCT	ENSP00000453346.1:p.Arg215=
ENST00000558518.5:c.644_646delinsGCT	ENSP00000454071.1:p.Arg215=
ENST00000560467.1:c.244_246delinsGCT
NM_000527.4:c.644_646delinsGCT , LRG_274t1:c.644_646delinsGCT	NP_000518.1:p.Arg215=
NM_001195798.1:c.644_646delinsGCT	NP_001182727.1:p.Arg215=
NM_001195799.1:c.521_523delinsGCT	NP_001182728.1:p.Arg174=
NM_001195800.1:c.314-1842_314-1840delinsGCT	NP_001182729.1:n.314-1842_314-1840delinsGCT
NM_001195803.1:c.314-1015_314-1013delinsGCT	NP_001182732.1:n.314-1015_314-1013delinsGCT
XM_011528010.1:c.644_646delinsGCT	XP_011526312.1:p.Arg215=
XM_011528011.1:c.314-1015_314-1013delinsGCT	XP_011526313.1:n.314-1015_314-1013delinsGCT
XR_244074.2:n.794_796delinsGCT
XM_011528010.2:c.644_646delinsGCT	XP_011526312.1:p.Arg215=
XR_001753685.2:n.761_763delinsGCT
XR_001753686.2:n.761_763delinsGCT
NM_000527.5:c.644_646delinsGCT MANE Select	NP_000518.1:p.Arg215=
NM_001195798.2:c.644_646delinsGCT	NP_001182727.1:p.Arg215=
NM_001195799.2:c.521_523delinsGCT	NP_001182728.1:p.Arg174=
NM_001195800.2:c.314-1842_314-1840delinsGCT	NP_001182729.1:n.314-1842_314-1840delinsGCT
NM_001195803.2:c.314-1015_314-1013delinsGCT	NP_001182732.1:n.314-1015_314-1013delinsGCT