Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123307_11123335delinsGCTCACCACGGTGGAGATAGTGACAATGT , CM000681.2:g.11123307_11123335delinsGCTCACCACGGTGGAGATAGTGACAATGT	GRCh38
NC_000019.9:g.11233983_11234011delinsGCTCACCACGGTGGAGATAGTGACAATGT , CM000681.1:g.11233983_11234011delinsGCTCACCACGGTGGAGATAGTGACAATGT	GRCh37
NC_000019.8:g.11094983_11095011delinsGCTCACCACGGTGGAGATAGTGACAATGT	NCBI36
NG_009060.1:g.38927_38955delinsGCTCACCACGGTGGAGATAGTGACAATGT , LRG_274:g.38927_38955delinsGCTCACCACGGTGGAGATAGTGACAATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2532_2560delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000252444.6:p.Gly844=
ENST00000559340.2:c.343_371delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000453696.2:n.343_371delinsGCTCACCACGGTGGAGATAGTGACAA...
ENST00000560467.2:c.2154_2182delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000453513.2:p.Gly718=
ENST00000558518.6:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT MANE Select	ENSP00000454071.1:p.Gly758=
ENST00000252444.9:c.2528_2556delinsGCTCACCACGGTGGAGATAGTGACAATGT
ENST00000455727.6:c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000397829.2:p.Gly590=
ENST00000535915.5:c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000440520.1:p.Gly717=
ENST00000545707.5:c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000437639.1:p.Gly580=
ENST00000557933.5:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000453557.1:p.Gly758=
ENST00000558013.5:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000453346.1:p.Gly758=
ENST00000558518.5:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	ENSP00000454071.1:p.Gly758=
NM_000527.4:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT , LRG_274t1:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_000518.1:p.Gly758=
NM_001195798.1:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182727.1:p.Gly758=
NM_001195799.1:c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182728.1:p.Gly717=
NM_001195800.1:c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182729.1:p.Gly590=
NM_001195803.1:c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182732.1:p.Gly580=
XM_011528010.1:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	XP_011526312.1:p.Gly758=
XM_011528011.1:c.1893_1921delinsGCTCACCACGGTGGAGATAGTGACAATGT	XP_011526313.1:p.Gly631=
XR_244074.2:n.2284_2312delinsGCTCACCACGGTGGAGATAGTGACAATGT
XM_011528010.2:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	XP_011526312.1:p.Gly758=
XR_001753685.2:n.2608_2636delinsGCTCACCACGGTGGAGATAGTGACAATGT
XR_001753686.2:n.2251_2279delinsGCTCACCACGGTGGAGATAGTGACAATGT
NM_000527.5:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT MANE Select	NP_000518.1:p.Gly758=
NM_001195798.2:c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182727.1:p.Gly758=
NM_001195799.2:c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182728.1:p.Gly717=
NM_001195800.2:c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182729.1:p.Gly590=
NM_001195803.2:c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT	NP_001182732.1:p.Gly580=