Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105756_11105757delinsCT , CM000681.2:g.11105756_11105757delinsCT	GRCh38
NC_000019.9:g.11216432_11216433delinsCT , CM000681.1:g.11216432_11216433delinsCT	GRCh37
NC_000019.8:g.11077432_11077433delinsCT	NCBI36
NG_009060.1:g.21376_21377delinsCT , LRG_274:g.21376_21377delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+156_952+157delinsCT	ENSP00000252444.6:n.952+156_952+157delinsCT
ENST00000559340.2:c.694+156_694+157delinsCT	ENSP00000453696.2:n.694+156_694+157delinsCT
ENST00000560467.2:c.694+156_694+157delinsCT	ENSP00000453513.2:n.694+156_694+157delinsCT
ENST00000558518.6:c.694+156_694+157delinsCT MANE Select	ENSP00000454071.1:n.694+156_694+157delinsCT
ENST00000252444.9:c.948+156_948+157delinsCT
ENST00000455727.6:c.314-1636_314-1635delinsCT	ENSP00000397829.2:n.314-1636_314-1635delinsCT
ENST00000535915.5:c.571+156_571+157delinsCT	ENSP00000440520.1:n.571+156_571+157delinsCT
ENST00000545707.5:c.314-809_314-808delinsCT	ENSP00000437639.1:n.314-809_314-808delinsCT
ENST00000557933.5:c.694+156_694+157delinsCT	ENSP00000453557.1:n.694+156_694+157delinsCT
ENST00000558013.5:c.694+156_694+157delinsCT	ENSP00000453346.1:n.694+156_694+157delinsCT
ENST00000558518.5:c.694+156_694+157delinsCT	ENSP00000454071.1:n.694+156_694+157delinsCT
ENST00000560467.1:c.294+156_294+157delinsCT
NM_000527.4:c.694+156_694+157delinsCT , LRG_274t1:c.694+156_694+157delinsCT	NP_000518.1:n.694+156_694+157delinsCT
NM_001195798.1:c.694+156_694+157delinsCT	NP_001182727.1:n.694+156_694+157delinsCT
NM_001195799.1:c.571+156_571+157delinsCT	NP_001182728.1:n.571+156_571+157delinsCT
NM_001195800.1:c.314-1636_314-1635delinsCT	NP_001182729.1:n.314-1636_314-1635delinsCT
NM_001195803.1:c.314-809_314-808delinsCT	NP_001182732.1:n.314-809_314-808delinsCT
XM_011528010.1:c.694+156_694+157delinsCT	XP_011526312.1:n.694+156_694+157delinsCT
XM_011528011.1:c.314-809_314-808delinsCT	XP_011526313.1:n.314-809_314-808delinsCT
XR_244074.2:n.844+156_844+157delinsCT
XM_011528010.2:c.694+156_694+157delinsCT	XP_011526312.1:n.694+156_694+157delinsCT
XR_001753685.2:n.811+156_811+157delinsCT
XR_001753686.2:n.811+156_811+157delinsCT
NM_000527.5:c.694+156_694+157delinsCT MANE Select	NP_000518.1:n.694+156_694+157delinsCT
NM_001195798.2:c.694+156_694+157delinsCT	NP_001182727.1:n.694+156_694+157delinsCT
NM_001195799.2:c.571+156_571+157delinsCT	NP_001182728.1:n.571+156_571+157delinsCT
NM_001195800.2:c.314-1636_314-1635delinsCT	NP_001182729.1:n.314-1636_314-1635delinsCT
NM_001195803.2:c.314-809_314-808delinsCT	NP_001182732.1:n.314-809_314-808delinsCT