Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105537_11105540delinsCACT , CM000681.2:g.11105537_11105540delinsCACT	GRCh38
NC_000019.9:g.11216213_11216216delinsCACT , CM000681.1:g.11216213_11216216delinsCACT	GRCh37
NC_000019.8:g.11077213_11077216delinsCACT	NCBI36
NG_009060.1:g.21157_21160delinsCACT , LRG_274:g.21157_21160delinsCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.889_892delinsCACT	ENSP00000252444.6:p.His297=
ENST00000559340.2:c.631_634delinsCACT	ENSP00000453696.2:p.His211=
ENST00000560467.2:c.631_634delinsCACT	ENSP00000453513.2:p.His211=
ENST00000558518.6:c.631_634delinsCACT MANE Select	ENSP00000454071.1:p.His211=
ENST00000252444.9:c.885_888delinsCACT
ENST00000455727.6:c.314-1855_314-1852delinsCACT	ENSP00000397829.2:n.314-1855_314-1852delinsCACT
ENST00000535915.5:c.508_511delinsCACT	ENSP00000440520.1:p.His170=
ENST00000545707.5:c.314-1028_314-1025delinsCACT	ENSP00000437639.1:n.314-1028_314-1025delinsCACT
ENST00000557933.5:c.631_634delinsCACT	ENSP00000453557.1:p.His211=
ENST00000558013.5:c.631_634delinsCACT	ENSP00000453346.1:p.His211=
ENST00000558518.5:c.631_634delinsCACT	ENSP00000454071.1:p.His211=
ENST00000560467.1:c.231_234delinsCACT
NM_000527.4:c.631_634delinsCACT , LRG_274t1:c.631_634delinsCACT	NP_000518.1:p.His211=
NM_001195798.1:c.631_634delinsCACT	NP_001182727.1:p.His211=
NM_001195799.1:c.508_511delinsCACT	NP_001182728.1:p.His170=
NM_001195800.1:c.314-1855_314-1852delinsCACT	NP_001182729.1:n.314-1855_314-1852delinsCACT
NM_001195803.1:c.314-1028_314-1025delinsCACT	NP_001182732.1:n.314-1028_314-1025delinsCACT
XM_011528010.1:c.631_634delinsCACT	XP_011526312.1:p.His211=
XM_011528011.1:c.314-1028_314-1025delinsCACT	XP_011526313.1:n.314-1028_314-1025delinsCACT
XR_244074.2:n.781_784delinsCACT
XM_011528010.2:c.631_634delinsCACT	XP_011526312.1:p.His211=
XR_001753685.2:n.748_751delinsCACT
XR_001753686.2:n.748_751delinsCACT
NM_000527.5:c.631_634delinsCACT MANE Select	NP_000518.1:p.His211=
NM_001195798.2:c.631_634delinsCACT	NP_001182727.1:p.His211=
NM_001195799.2:c.508_511delinsCACT	NP_001182728.1:p.His170=
NM_001195800.2:c.314-1855_314-1852delinsCACT	NP_001182729.1:n.314-1855_314-1852delinsCACT
NM_001195803.2:c.314-1028_314-1025delinsCACT	NP_001182732.1:n.314-1028_314-1025delinsCACT