Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110680_11110681delinsCG , CM000681.2:g.11110680_11110681delinsCG	GRCh38
NC_000019.9:g.11221356_11221357delinsCG , CM000681.1:g.11221356_11221357delinsCG	GRCh37
NC_000019.8:g.11082356_11082357delinsCG	NCBI36
NG_009060.1:g.26300_26301delinsCG , LRG_274:g.26300_26301delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1227_1228delinsCG	ENSP00000252444.6:p.Gly409=
ENST00000559340.2:c.969_970delinsCG	ENSP00000453696.2:p.Gly323=
ENST00000560467.2:c.941-834_941-833delinsCG	ENSP00000453513.2:n.941-834_941-833delinsCG
ENST00000558518.6:c.969_970delinsCG MANE Select	ENSP00000454071.1:p.Gly323=
ENST00000252444.9:c.1223_1224delinsCG
ENST00000455727.6:c.465_466delinsCG	ENSP00000397829.2:p.Gly155=
ENST00000535915.5:c.846_847delinsCG	ENSP00000440520.1:p.Gly282=
ENST00000545707.5:c.588_589delinsCG	ENSP00000437639.1:p.Gly196=
ENST00000557933.5:c.969_970delinsCG	ENSP00000453557.1:p.Gly323=
ENST00000558013.5:c.969_970delinsCG	ENSP00000453346.1:p.Gly323=
ENST00000558518.5:c.969_970delinsCG	ENSP00000454071.1:p.Gly323=
ENST00000560467.1:c.541-834_541-833delinsCG
NM_000527.4:c.969_970delinsCG , LRG_274t1:c.969_970delinsCG	NP_000518.1:p.Gly323=
NM_001195798.1:c.969_970delinsCG	NP_001182727.1:p.Gly323=
NM_001195799.1:c.846_847delinsCG	NP_001182728.1:p.Gly282=
NM_001195800.1:c.465_466delinsCG	NP_001182729.1:p.Gly155=
NM_001195803.1:c.588_589delinsCG	NP_001182732.1:p.Gly196=
XM_011528010.1:c.969_970delinsCG	XP_011526312.1:p.Gly323=
XM_011528011.1:c.588_589delinsCG	XP_011526313.1:p.Gly196=
XR_244074.2:n.1119_1120delinsCG
XM_011528010.2:c.969_970delinsCG	XP_011526312.1:p.Gly323=
XR_001753685.2:n.1086_1087delinsCG
XR_001753686.2:n.1086_1087delinsCG
NM_000527.5:c.969_970delinsCG MANE Select	NP_000518.1:p.Gly323=
NM_001195798.2:c.969_970delinsCG	NP_001182727.1:p.Gly323=
NM_001195799.2:c.846_847delinsCG	NP_001182728.1:p.Gly282=
NM_001195800.2:c.465_466delinsCG	NP_001182729.1:p.Gly155=
NM_001195803.2:c.588_589delinsCG	NP_001182732.1:p.Gly196=