Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123613_11123614insACGGT , CM000681.2:g.11123613_11123614insACGGT	GRCh38
NC_000019.9:g.11234289_11234290insACGGT , CM000681.1:g.11234289_11234290insACGGT	GRCh37
NC_000019.8:g.11095289_11095290insACGGT	NCBI36
NG_009060.1:g.39233_39234insACGGT , LRG_274:g.39233_39234insACGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+269_2569+270insACGGT	ENSP00000252444.6:n.2569+269_2569+270insACGGT
ENST00000559340.2:c.380+269_380+270insACGGT	ENSP00000453696.2:n.380+269_380+270insACGGT
ENST00000560467.2:c.2191+269_2191+270insACGGT	ENSP00000453513.2:n.2191+269_2191+270insACGGT
ENST00000558518.6:c.2311+269_2311+270insACGGT MANE Select	ENSP00000454071.1:n.2311+269_2311+270insACGGT
ENST00000252444.9:c.2565+269_2565+270insACGGT
ENST00000455727.6:c.1807+269_1807+270insACGGT	ENSP00000397829.2:n.1807+269_1807+270insACGGT
ENST00000535915.5:c.2188+269_2188+270insACGGT	ENSP00000440520.1:n.2188+269_2188+270insACGGT
ENST00000545707.5:c.1777+269_1777+270insACGGT	ENSP00000437639.1:n.1777+269_1777+270insACGGT
ENST00000557933.5:c.2311+269_2311+270insACGGT	ENSP00000453557.1:n.2311+269_2311+270insACGGT
ENST00000558013.5:c.2311+269_2311+270insACGGT	ENSP00000453346.1:n.2311+269_2311+270insACGGT
ENST00000558518.5:c.2311+269_2311+270insACGGT	ENSP00000454071.1:n.2311+269_2311+270insACGGT
NM_000527.4:c.2311+269_2311+270insACGGT , LRG_274t1:c.2311+269_2311+270insACGGT	NP_000518.1:n.2311+269_2311+270insACGGT
NM_001195798.1:c.2311+269_2311+270insACGGT	NP_001182727.1:n.2311+269_2311+270insACGGT
NM_001195799.1:c.2188+269_2188+270insACGGT	NP_001182728.1:n.2188+269_2188+270insACGGT
NM_001195800.1:c.1807+269_1807+270insACGGT	NP_001182729.1:n.1807+269_1807+270insACGGT
NM_001195803.1:c.1777+269_1777+270insACGGT	NP_001182732.1:n.1777+269_1777+270insACGGT
XM_011528010.1:c.2311+269_2311+270insACGGT	XP_011526312.1:n.2311+269_2311+270insACGGT
XM_011528011.1:c.1930+269_1930+270insACGGT	XP_011526313.1:n.1930+269_1930+270insACGGT
XR_244074.2:n.2321+269_2321+270insACGGT
XM_011528010.2:c.2311+269_2311+270insACGGT	XP_011526312.1:n.2311+269_2311+270insACGGT
XR_001753685.2:n.2645+269_2645+270insACGGT
XR_001753686.2:n.2288+269_2288+270insACGGT
NM_000527.5:c.2311+269_2311+270insACGGT MANE Select	NP_000518.1:n.2311+269_2311+270insACGGT
NM_001195798.2:c.2311+269_2311+270insACGGT	NP_001182727.1:n.2311+269_2311+270insACGGT
NM_001195799.2:c.2188+269_2188+270insACGGT	NP_001182728.1:n.2188+269_2188+270insACGGT
NM_001195800.2:c.1807+269_1807+270insACGGT	NP_001182729.1:n.1807+269_1807+270insACGGT
NM_001195803.2:c.1777+269_1777+270insACGGT	NP_001182732.1:n.1777+269_1777+270insACGGT