Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111742_11111743delinsAC , CM000681.2:g.11111742_11111743delinsAC	GRCh38
NC_000019.9:g.11222418_11222419delinsAC , CM000681.1:g.11222418_11222419delinsAC	GRCh37
NC_000019.8:g.11083418_11083419delinsAC	NCBI36
NG_009060.1:g.27362_27363delinsAC , LRG_274:g.27362_27363delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1444+103_1444+104delinsAC	ENSP00000252444.6:n.1444+103_1444+104delinsAC
ENST00000559340.2:c.1186+103_1186+104delinsAC	ENSP00000453696.2:n.1186+103_1186+104delinsAC
ENST00000560467.2:c.1066+103_1066+104delinsAC	ENSP00000453513.2:n.1066+103_1066+104delinsAC
ENST00000558518.6:c.1186+103_1186+104delinsAC MANE Select	ENSP00000454071.1:n.1186+103_1186+104delinsAC
ENST00000252444.9:c.1440+103_1440+104delinsAC
ENST00000455727.6:c.682+103_682+104delinsAC	ENSP00000397829.2:n.682+103_682+104delinsAC
ENST00000535915.5:c.1063+103_1063+104delinsAC	ENSP00000440520.1:n.1063+103_1063+104delinsAC
ENST00000545707.5:c.805+103_805+104delinsAC	ENSP00000437639.1:n.805+103_805+104delinsAC
ENST00000557933.5:c.1186+103_1186+104delinsAC	ENSP00000453557.1:n.1186+103_1186+104delinsAC
ENST00000558013.5:c.1186+103_1186+104delinsAC	ENSP00000453346.1:n.1186+103_1186+104delinsAC
ENST00000558518.5:c.1186+103_1186+104delinsAC	ENSP00000454071.1:n.1186+103_1186+104delinsAC
ENST00000560173.1:n.185+103_185+104delinsAC
ENST00000560467.1:c.666+103_666+104delinsAC
NM_000527.4:c.1186+103_1186+104delinsAC , LRG_274t1:c.1186+103_1186+104delinsAC	NP_000518.1:n.1186+103_1186+104delinsAC
NM_001195798.1:c.1186+103_1186+104delinsAC	NP_001182727.1:n.1186+103_1186+104delinsAC
NM_001195799.1:c.1063+103_1063+104delinsAC	NP_001182728.1:n.1063+103_1063+104delinsAC
NM_001195800.1:c.682+103_682+104delinsAC	NP_001182729.1:n.682+103_682+104delinsAC
NM_001195803.1:c.805+103_805+104delinsAC	NP_001182732.1:n.805+103_805+104delinsAC
XM_011528010.1:c.1186+103_1186+104delinsAC	XP_011526312.1:n.1186+103_1186+104delinsAC
XM_011528011.1:c.805+103_805+104delinsAC	XP_011526313.1:n.805+103_805+104delinsAC
XR_244074.2:n.1336+103_1336+104delinsAC
XM_011528010.2:c.1186+103_1186+104delinsAC	XP_011526312.1:n.1186+103_1186+104delinsAC
XR_001753685.2:n.1303+103_1303+104delinsAC
XR_001753686.2:n.1303+103_1303+104delinsAC
NM_000527.5:c.1186+103_1186+104delinsAC MANE Select	NP_000518.1:n.1186+103_1186+104delinsAC
NM_001195798.2:c.1186+103_1186+104delinsAC	NP_001182727.1:n.1186+103_1186+104delinsAC
NM_001195799.2:c.1063+103_1063+104delinsAC	NP_001182728.1:n.1063+103_1063+104delinsAC
NM_001195800.2:c.682+103_682+104delinsAC	NP_001182729.1:n.682+103_682+104delinsAC
NM_001195803.2:c.805+103_805+104delinsAC	NP_001182732.1:n.805+103_805+104delinsAC