Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129514_11129522delinsGCTCCTCGT , CM000681.2:g.11129514_11129522delinsGCTCCTCGT	GRCh38
NC_000019.9:g.11240190_11240198delinsGCTCCTCGT , CM000681.1:g.11240190_11240198delinsGCTCCTCGT	GRCh37
NC_000019.8:g.11101190_11101198delinsGCTCCTCGT	NCBI36
NG_009060.1:g.45134_45142delinsGCTCCTCGT , LRG_274:g.45134_45142delinsGCTCCTCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2649_2657delinsGCTCCTCGT	ENSP00000252444.6:p.Val883=
ENST00000559340.2:c.460_468delinsGCTCCTCGT	ENSP00000453696.2:n.460_468delinsGCTCCTCGT
ENST00000560467.2:c.2271_2279delinsGCTCCTCGT	ENSP00000453513.2:p.Val757=
ENST00000558518.6:c.2391_2399delinsGCTCCTCGT MANE Select	ENSP00000454071.1:p.Val797=
ENST00000252444.9:c.2645_2653delinsGCTCCTCGT
ENST00000455727.6:c.1887_1895delinsGCTCCTCGT	ENSP00000397829.2:p.Val629=
ENST00000535915.5:c.2268_2276delinsGCTCCTCGT	ENSP00000440520.1:p.Val756=
ENST00000545707.5:c.1857_1865delinsGCTCCTCGT	ENSP00000437639.1:p.Val619=
ENST00000557933.5:c.2453_2461delinsGCTCCTCGT	ENSP00000453557.1:p.Cys818=
ENST00000558013.5:c.2391_2399delinsGCTCCTCGT	ENSP00000453346.1:p.Val797=
ENST00000558518.5:c.2391_2399delinsGCTCCTCGT	ENSP00000454071.1:p.Val797=
ENST00000560628.1:n.108+1860_108+1868delinsGCTCCTCGT
NM_000527.4:c.2391_2399delinsGCTCCTCGT , LRG_274t1:c.2391_2399delinsGCTCCTCGT	NP_000518.1:p.Val797=
NM_001195798.1:c.2391_2399delinsGCTCCTCGT	NP_001182727.1:p.Val797=
NM_001195799.1:c.2268_2276delinsGCTCCTCGT	NP_001182728.1:p.Val756=
NM_001195800.1:c.1887_1895delinsGCTCCTCGT	NP_001182729.1:p.Val629=
NM_001195803.1:c.1857_1865delinsGCTCCTCGT	NP_001182732.1:p.Val619=
XM_011528010.1:c.2313_2321delinsGCTCCTCGT	XP_011526312.1:p.Val771=
XM_011528011.1:c.2010_2018delinsGCTCCTCGT	XP_011526313.1:p.Val670=
XR_244074.2:n.2401_2409delinsGCTCCTCGT
XM_011528010.2:c.2313_2321delinsGCTCCTCGT	XP_011526312.1:p.Val771=
XR_001753685.2:n.2725_2733delinsGCTCCTCGT
XR_001753686.2:n.2368_2376delinsGCTCCTCGT
NM_000527.5:c.2391_2399delinsGCTCCTCGT MANE Select	NP_000518.1:p.Val797=
NM_001195798.2:c.2391_2399delinsGCTCCTCGT	NP_001182727.1:p.Val797=
NM_001195799.2:c.2268_2276delinsGCTCCTCGT	NP_001182728.1:p.Val756=
NM_001195800.2:c.1887_1895delinsGCTCCTCGT	NP_001182729.1:p.Val629=
NM_001195803.2:c.1857_1865delinsGCTCCTCGT	NP_001182732.1:p.Val619=