Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123294_11123304delinsGGGCCACCCCT , CM000681.2:g.11123294_11123304delinsGGGCCACCCCT	GRCh38
NC_000019.9:g.11233970_11233980delinsGGGCCACCCCT , CM000681.1:g.11233970_11233980delinsGGGCCACCCCT	GRCh37
NC_000019.8:g.11094970_11094980delinsGGGCCACCCCT	NCBI36
NG_009060.1:g.38914_38924delinsGGGCCACCCCT , LRG_274:g.38914_38924delinsGGGCCACCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2519_2529delinsGGGCCACCCCT	ENSP00000252444.6:p.Gly840=
ENST00000559340.2:c.330_340delinsGGGCCACCCCT	ENSP00000453696.2:n.330_340delinsGGGCCACCCCT
ENST00000560467.2:c.2141_2151delinsGGGCCACCCCT	ENSP00000453513.2:p.Gly714=
ENST00000558518.6:c.2261_2271delinsGGGCCACCCCT MANE Select	ENSP00000454071.1:p.Gly754=
ENST00000252444.9:c.2515_2525delinsGGGCCACCCCT
ENST00000455727.6:c.1757_1767delinsGGGCCACCCCT	ENSP00000397829.2:p.Gly586=
ENST00000535915.5:c.2138_2148delinsGGGCCACCCCT	ENSP00000440520.1:p.Gly713=
ENST00000545707.5:c.1727_1737delinsGGGCCACCCCT	ENSP00000437639.1:p.Gly576=
ENST00000557933.5:c.2261_2271delinsGGGCCACCCCT	ENSP00000453557.1:p.Gly754=
ENST00000558013.5:c.2261_2271delinsGGGCCACCCCT	ENSP00000453346.1:p.Gly754=
ENST00000558518.5:c.2261_2271delinsGGGCCACCCCT	ENSP00000454071.1:p.Gly754=
NM_000527.4:c.2261_2271delinsGGGCCACCCCT , LRG_274t1:c.2261_2271delinsGGGCCACCCCT	NP_000518.1:p.Gly754=
NM_001195798.1:c.2261_2271delinsGGGCCACCCCT	NP_001182727.1:p.Gly754=
NM_001195799.1:c.2138_2148delinsGGGCCACCCCT	NP_001182728.1:p.Gly713=
NM_001195800.1:c.1757_1767delinsGGGCCACCCCT	NP_001182729.1:p.Gly586=
NM_001195803.1:c.1727_1737delinsGGGCCACCCCT	NP_001182732.1:p.Gly576=
XM_011528010.1:c.2261_2271delinsGGGCCACCCCT	XP_011526312.1:p.Gly754=
XM_011528011.1:c.1880_1890delinsGGGCCACCCCT	XP_011526313.1:p.Gly627=
XR_244074.2:n.2271_2281delinsGGGCCACCCCT
XM_011528010.2:c.2261_2271delinsGGGCCACCCCT	XP_011526312.1:p.Gly754=
XR_001753685.2:n.2595_2605delinsGGGCCACCCCT
XR_001753686.2:n.2238_2248delinsGGGCCACCCCT
NM_000527.5:c.2261_2271delinsGGGCCACCCCT MANE Select	NP_000518.1:p.Gly754=
NM_001195798.2:c.2261_2271delinsGGGCCACCCCT	NP_001182727.1:p.Gly754=
NM_001195799.2:c.2138_2148delinsGGGCCACCCCT	NP_001182728.1:p.Gly713=
NM_001195800.2:c.1757_1767delinsGGGCCACCCCT	NP_001182729.1:p.Gly586=
NM_001195803.2:c.1727_1737delinsGGGCCACCCCT	NP_001182732.1:p.Gly576=