Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107481_11107482delinsCG , CM000681.2:g.11107481_11107482delinsCG	GRCh38
NC_000019.9:g.11218157_11218158delinsCG , CM000681.1:g.11218157_11218158delinsCG	GRCh37
NC_000019.8:g.11079157_11079158delinsCG	NCBI36
NG_009060.1:g.23101_23102delinsCG , LRG_274:g.23101_23102delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1165_1166delinsCG	ENSP00000252444.6:p.Arg389=
ENST00000559340.2:c.907_908delinsCG	ENSP00000453696.2:p.Arg303=
ENST00000560467.2:c.907_908delinsCG	ENSP00000453513.2:p.Arg303=
ENST00000558518.6:c.907_908delinsCG MANE Select	ENSP00000454071.1:p.Arg303=
ENST00000252444.9:c.1161_1162delinsCG
ENST00000455727.6:c.403_404delinsCG	ENSP00000397829.2:p.Arg135=
ENST00000535915.5:c.784_785delinsCG	ENSP00000440520.1:p.Arg262=
ENST00000545707.5:c.526_527delinsCG	ENSP00000437639.1:p.Arg176=
ENST00000557933.5:c.907_908delinsCG	ENSP00000453557.1:p.Arg303=
ENST00000558013.5:c.907_908delinsCG	ENSP00000453346.1:p.Arg303=
ENST00000558518.5:c.907_908delinsCG	ENSP00000454071.1:p.Arg303=
ENST00000558528.1:n.422_423delinsCG
ENST00000560467.1:c.507_508delinsCG
NM_000527.4:c.907_908delinsCG , LRG_274t1:c.907_908delinsCG	NP_000518.1:p.Arg303=
NM_001195798.1:c.907_908delinsCG	NP_001182727.1:p.Arg303=
NM_001195799.1:c.784_785delinsCG	NP_001182728.1:p.Arg262=
NM_001195800.1:c.403_404delinsCG	NP_001182729.1:p.Arg135=
NM_001195803.1:c.526_527delinsCG	NP_001182732.1:p.Arg176=
XM_011528010.1:c.907_908delinsCG	XP_011526312.1:p.Arg303=
XM_011528011.1:c.526_527delinsCG	XP_011526313.1:p.Arg176=
XR_244074.2:n.1057_1058delinsCG
XM_011528010.2:c.907_908delinsCG	XP_011526312.1:p.Arg303=
XR_001753685.2:n.1024_1025delinsCG
XR_001753686.2:n.1024_1025delinsCG
NM_000527.5:c.907_908delinsCG MANE Select	NP_000518.1:p.Arg303=
NM_001195798.2:c.907_908delinsCG	NP_001182727.1:p.Arg303=
NM_001195799.2:c.784_785delinsCG	NP_001182728.1:p.Arg262=
NM_001195800.2:c.403_404delinsCG	NP_001182729.1:p.Arg135=
NM_001195803.2:c.526_527delinsCG	NP_001182732.1:p.Arg176=