Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11108319_11108321delinsCAG , CM000681.2:g.11108319_11108321delinsCAG	GRCh38
NC_000019.9:g.11218995_11218997delinsCAG , CM000681.1:g.11218995_11218997delinsCAG	GRCh37
NC_000019.8:g.11079995_11079997delinsCAG	NCBI36
NG_009060.1:g.23939_23941delinsCAG , LRG_274:g.23939_23941delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1198+805_1198+807delinsCAG	ENSP00000252444.6:n.1198+805_1198+807delinsCAG
ENST00000559340.2:c.940+805_940+807delinsCAG	ENSP00000453696.2:n.940+805_940+807delinsCAG
ENST00000560467.2:c.940+805_940+807delinsCAG	ENSP00000453513.2:n.940+805_940+807delinsCAG
ENST00000558518.6:c.940+805_940+807delinsCAG MANE Select	ENSP00000454071.1:n.940+805_940+807delinsCAG
ENST00000252444.9:c.1194+805_1194+807delinsCAG
ENST00000455727.6:c.436+805_436+807delinsCAG	ENSP00000397829.2:n.436+805_436+807delinsCAG
ENST00000535915.5:c.817+805_817+807delinsCAG	ENSP00000440520.1:n.817+805_817+807delinsCAG
ENST00000545707.5:c.559+805_559+807delinsCAG	ENSP00000437639.1:n.559+805_559+807delinsCAG
ENST00000557933.5:c.940+805_940+807delinsCAG	ENSP00000453557.1:n.940+805_940+807delinsCAG
ENST00000558013.5:c.940+805_940+807delinsCAG	ENSP00000453346.1:n.940+805_940+807delinsCAG
ENST00000558518.5:c.940+805_940+807delinsCAG	ENSP00000454071.1:n.940+805_940+807delinsCAG
ENST00000560467.1:c.540+805_540+807delinsCAG
NM_000527.4:c.940+805_940+807delinsCAG , LRG_274t1:c.940+805_940+807delinsCAG	NP_000518.1:n.940+805_940+807delinsCAG
NM_001195798.1:c.940+805_940+807delinsCAG	NP_001182727.1:n.940+805_940+807delinsCAG
NM_001195799.1:c.817+805_817+807delinsCAG	NP_001182728.1:n.817+805_817+807delinsCAG
NM_001195800.1:c.436+805_436+807delinsCAG	NP_001182729.1:n.436+805_436+807delinsCAG
NM_001195803.1:c.559+805_559+807delinsCAG	NP_001182732.1:n.559+805_559+807delinsCAG
XM_011528010.1:c.940+805_940+807delinsCAG	XP_011526312.1:n.940+805_940+807delinsCAG
XM_011528011.1:c.559+805_559+807delinsCAG	XP_011526313.1:n.559+805_559+807delinsCAG
XR_244074.2:n.1090+805_1090+807delinsCAG
XM_011528010.2:c.940+805_940+807delinsCAG	XP_011526312.1:n.940+805_940+807delinsCAG
XR_001753685.2:n.1057+805_1057+807delinsCAG
XR_001753686.2:n.1057+805_1057+807delinsCAG
NM_000527.5:c.940+805_940+807delinsCAG MANE Select	NP_000518.1:n.940+805_940+807delinsCAG
NM_001195798.2:c.940+805_940+807delinsCAG	NP_001182727.1:n.940+805_940+807delinsCAG
NM_001195799.2:c.817+805_817+807delinsCAG	NP_001182728.1:n.817+805_817+807delinsCAG
NM_001195800.2:c.436+805_436+807delinsCAG	NP_001182729.1:n.436+805_436+807delinsCAG
NM_001195803.2:c.559+805_559+807delinsCAG	NP_001182732.1:n.559+805_559+807delinsCAG