Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107478_11107479delinsTG , CM000681.2:g.11107478_11107479delinsTG	GRCh38
NC_000019.9:g.11218154_11218155delinsTG , CM000681.1:g.11218154_11218155delinsTG	GRCh37
NC_000019.8:g.11079154_11079155delinsTG	NCBI36
NG_009060.1:g.23098_23099delinsTG , LRG_274:g.23098_23099delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1162_1163delinsTG	ENSP00000252444.6:p.Cys388=
ENST00000559340.2:c.904_905delinsTG	ENSP00000453696.2:p.Cys302=
ENST00000560467.2:c.904_905delinsTG	ENSP00000453513.2:p.Cys302=
ENST00000558518.6:c.904_905delinsTG MANE Select	ENSP00000454071.1:p.Cys302=
ENST00000252444.9:c.1158_1159delinsTG
ENST00000455727.6:c.400_401delinsTG	ENSP00000397829.2:p.Cys134=
ENST00000535915.5:c.781_782delinsTG	ENSP00000440520.1:p.Cys261=
ENST00000545707.5:c.523_524delinsTG	ENSP00000437639.1:p.Cys175=
ENST00000557933.5:c.904_905delinsTG	ENSP00000453557.1:p.Cys302=
ENST00000558013.5:c.904_905delinsTG	ENSP00000453346.1:p.Cys302=
ENST00000558518.5:c.904_905delinsTG	ENSP00000454071.1:p.Cys302=
ENST00000558528.1:n.419_420delinsTG
ENST00000560467.1:c.504_505delinsTG
NM_000527.4:c.904_905delinsTG , LRG_274t1:c.904_905delinsTG	NP_000518.1:p.Cys302=
NM_001195798.1:c.904_905delinsTG	NP_001182727.1:p.Cys302=
NM_001195799.1:c.781_782delinsTG	NP_001182728.1:p.Cys261=
NM_001195800.1:c.400_401delinsTG	NP_001182729.1:p.Cys134=
NM_001195803.1:c.523_524delinsTG	NP_001182732.1:p.Cys175=
XM_011528010.1:c.904_905delinsTG	XP_011526312.1:p.Cys302=
XM_011528011.1:c.523_524delinsTG	XP_011526313.1:p.Cys175=
XR_244074.2:n.1054_1055delinsTG
XM_011528010.2:c.904_905delinsTG	XP_011526312.1:p.Cys302=
XR_001753685.2:n.1021_1022delinsTG
XR_001753686.2:n.1021_1022delinsTG
NM_000527.5:c.904_905delinsTG MANE Select	NP_000518.1:p.Cys302=
NM_001195798.2:c.904_905delinsTG	NP_001182727.1:p.Cys302=
NM_001195799.2:c.781_782delinsTG	NP_001182728.1:p.Cys261=
NM_001195800.2:c.400_401delinsTG	NP_001182729.1:p.Cys134=
NM_001195803.2:c.523_524delinsTG	NP_001182732.1:p.Cys175=