Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11108242_11108243delinsAG , CM000681.2:g.11108242_11108243delinsAG	GRCh38
NC_000019.9:g.11218918_11218919delinsAG , CM000681.1:g.11218918_11218919delinsAG	GRCh37
NC_000019.8:g.11079918_11079919delinsAG	NCBI36
NG_009060.1:g.23862_23863delinsAG , LRG_274:g.23862_23863delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1198+728_1198+729delinsAG	ENSP00000252444.6:n.1198+728_1198+729delinsAG
ENST00000559340.2:c.940+728_940+729delinsAG	ENSP00000453696.2:n.940+728_940+729delinsAG
ENST00000560467.2:c.940+728_940+729delinsAG	ENSP00000453513.2:n.940+728_940+729delinsAG
ENST00000558518.6:c.940+728_940+729delinsAG MANE Select	ENSP00000454071.1:n.940+728_940+729delinsAG
ENST00000252444.9:c.1194+728_1194+729delinsAG
ENST00000455727.6:c.436+728_436+729delinsAG	ENSP00000397829.2:n.436+728_436+729delinsAG
ENST00000535915.5:c.817+728_817+729delinsAG	ENSP00000440520.1:n.817+728_817+729delinsAG
ENST00000545707.5:c.559+728_559+729delinsAG	ENSP00000437639.1:n.559+728_559+729delinsAG
ENST00000557933.5:c.940+728_940+729delinsAG	ENSP00000453557.1:n.940+728_940+729delinsAG
ENST00000558013.5:c.940+728_940+729delinsAG	ENSP00000453346.1:n.940+728_940+729delinsAG
ENST00000558518.5:c.940+728_940+729delinsAG	ENSP00000454071.1:n.940+728_940+729delinsAG
ENST00000560467.1:c.540+728_540+729delinsAG
NM_000527.4:c.940+728_940+729delinsAG , LRG_274t1:c.940+728_940+729delinsAG	NP_000518.1:n.940+728_940+729delinsAG
NM_001195798.1:c.940+728_940+729delinsAG	NP_001182727.1:n.940+728_940+729delinsAG
NM_001195799.1:c.817+728_817+729delinsAG	NP_001182728.1:n.817+728_817+729delinsAG
NM_001195800.1:c.436+728_436+729delinsAG	NP_001182729.1:n.436+728_436+729delinsAG
NM_001195803.1:c.559+728_559+729delinsAG	NP_001182732.1:n.559+728_559+729delinsAG
XM_011528010.1:c.940+728_940+729delinsAG	XP_011526312.1:n.940+728_940+729delinsAG
XM_011528011.1:c.559+728_559+729delinsAG	XP_011526313.1:n.559+728_559+729delinsAG
XR_244074.2:n.1090+728_1090+729delinsAG
XM_011528010.2:c.940+728_940+729delinsAG	XP_011526312.1:n.940+728_940+729delinsAG
XR_001753685.2:n.1057+728_1057+729delinsAG
XR_001753686.2:n.1057+728_1057+729delinsAG
NM_000527.5:c.940+728_940+729delinsAG MANE Select	NP_000518.1:n.940+728_940+729delinsAG
NM_001195798.2:c.940+728_940+729delinsAG	NP_001182727.1:n.940+728_940+729delinsAG
NM_001195799.2:c.817+728_817+729delinsAG	NP_001182728.1:n.817+728_817+729delinsAG
NM_001195800.2:c.436+728_436+729delinsAG	NP_001182729.1:n.436+728_436+729delinsAG
NM_001195803.2:c.559+728_559+729delinsAG	NP_001182732.1:n.559+728_559+729delinsAG