Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105244_11105249delinsT , CM000681.2:g.11105244_11105249delinsT	GRCh38
NC_000019.9:g.11215920_11215925delinsT , CM000681.1:g.11215920_11215925delinsT	GRCh37
NC_000019.8:g.11076920_11076925delinsT	NCBI36
NG_009060.1:g.20864_20869delinsT , LRG_274:g.20864_20869delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.596_601delinsT	ENSP00000252444.6:p.Glu199ValfsTer15
ENST00000559340.2:c.338_343delinsT	ENSP00000453696.2:p.Glu113ValfsTer15
ENST00000560467.2:c.338_343delinsT	ENSP00000453513.2:p.Glu113ValfsTer15
ENST00000558518.6:c.338_343delinsT MANE Select	ENSP00000454071.1:p.Glu113ValfsTer15
ENST00000252444.9:c.592_597delinsT
ENST00000455727.6:c.314-2148_314-2143delinsT	ENSP00000397829.2:n.314-2148_314-2143delinsT
ENST00000535915.5:c.215_220delinsT	ENSP00000440520.1:p.Glu72ValfsTer15
ENST00000545707.5:c.314-1321_314-1316delinsT	ENSP00000437639.1:n.314-1321_314-1316delinsT
ENST00000557933.5:c.338_343delinsT	ENSP00000453557.1:p.Glu113ValfsTer15
ENST00000558013.5:c.338_343delinsT	ENSP00000453346.1:p.Glu113ValfsTer15
ENST00000558518.5:c.338_343delinsT	ENSP00000454071.1:p.Glu113ValfsTer15
NM_000527.4:c.338_343delinsT , LRG_274t1:c.338_343delinsT	NP_000518.1:p.Glu113ValfsTer15
NM_001195798.1:c.338_343delinsT	NP_001182727.1:p.Glu113ValfsTer15
NM_001195799.1:c.215_220delinsT	NP_001182728.1:p.Glu72ValfsTer15
NM_001195800.1:c.314-2148_314-2143delinsT	NP_001182729.1:n.314-2148_314-2143delinsT
NM_001195803.1:c.314-1321_314-1316delinsT	NP_001182732.1:n.314-1321_314-1316delinsT
XM_011528010.1:c.338_343delinsT	XP_011526312.1:p.Glu113ValfsTer15
XM_011528011.1:c.314-1321_314-1316delinsT	XP_011526313.1:n.314-1321_314-1316delinsT
XR_244074.2:n.488_493delinsT
XM_011528010.2:c.338_343delinsT	XP_011526312.1:p.Glu113ValfsTer15
XR_001753685.2:n.455_460delinsT
XR_001753686.2:n.455_460delinsT
NM_000527.5:c.338_343delinsT MANE Select	NP_000518.1:p.Glu113ValfsTer15
NM_001195798.2:c.338_343delinsT	NP_001182727.1:p.Glu113ValfsTer15
NM_001195799.2:c.215_220delinsT	NP_001182728.1:p.Glu72ValfsTer15
NM_001195800.2:c.314-2148_314-2143delinsT	NP_001182729.1:n.314-2148_314-2143delinsT
NM_001195803.2:c.314-1321_314-1316delinsT	NP_001182732.1:n.314-1321_314-1316delinsT