Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129515_11129524delinsCTCCTCGTCT , CM000681.2:g.11129515_11129524delinsCTCCTCGTCT	GRCh38
NC_000019.9:g.11240191_11240200delinsCTCCTCGTCT , CM000681.1:g.11240191_11240200delinsCTCCTCGTCT	GRCh37
NC_000019.8:g.11101191_11101200delinsCTCCTCGTCT	NCBI36
NG_009060.1:g.45135_45144delinsCTCCTCGTCT , LRG_274:g.45135_45144delinsCTCCTCGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2650_2659delinsCTCCTCGTCT	ENSP00000252444.6:p.Leu884=
ENST00000559340.2:c.461_470delinsCTCCTCGTCT	ENSP00000453696.2:n.461_470delinsCTCCTCGTCT
ENST00000560467.2:c.2272_2281delinsCTCCTCGTCT	ENSP00000453513.2:p.Leu758=
ENST00000558518.6:c.2392_2401delinsCTCCTCGTCT MANE Select	ENSP00000454071.1:p.Leu798=
ENST00000252444.9:c.2646_2655delinsCTCCTCGTCT
ENST00000455727.6:c.1888_1897delinsCTCCTCGTCT	ENSP00000397829.2:p.Leu630=
ENST00000535915.5:c.2269_2278delinsCTCCTCGTCT	ENSP00000440520.1:p.Leu757=
ENST00000545707.5:c.1858_1867delinsCTCCTCGTCT	ENSP00000437639.1:p.Leu620=
ENST00000557933.5:c.2454_2463delinsCTCCTCGTCT	ENSP00000453557.1:p.Cys818=
ENST00000558013.5:c.2392_2401delinsCTCCTCGTCT	ENSP00000453346.1:p.Leu798=
ENST00000558518.5:c.2392_2401delinsCTCCTCGTCT	ENSP00000454071.1:p.Leu798=
ENST00000560628.1:n.108+1861_108+1870delinsCTCCTCGTCT
NM_000527.4:c.2392_2401delinsCTCCTCGTCT , LRG_274t1:c.2392_2401delinsCTCCTCGTCT	NP_000518.1:p.Leu798=
NM_001195798.1:c.2392_2401delinsCTCCTCGTCT	NP_001182727.1:p.Leu798=
NM_001195799.1:c.2269_2278delinsCTCCTCGTCT	NP_001182728.1:p.Leu757=
NM_001195800.1:c.1888_1897delinsCTCCTCGTCT	NP_001182729.1:p.Leu630=
NM_001195803.1:c.1858_1867delinsCTCCTCGTCT	NP_001182732.1:p.Leu620=
XM_011528010.1:c.2314_2323delinsCTCCTCGTCT	XP_011526312.1:p.Leu772=
XM_011528011.1:c.2011_2020delinsCTCCTCGTCT	XP_011526313.1:p.Leu671=
XR_244074.2:n.2402_2411delinsCTCCTCGTCT
XM_011528010.2:c.2314_2323delinsCTCCTCGTCT	XP_011526312.1:p.Leu772=
XR_001753685.2:n.2726_2735delinsCTCCTCGTCT
XR_001753686.2:n.2369_2378delinsCTCCTCGTCT
NM_000527.5:c.2392_2401delinsCTCCTCGTCT MANE Select	NP_000518.1:p.Leu798=
NM_001195798.2:c.2392_2401delinsCTCCTCGTCT	NP_001182727.1:p.Leu798=
NM_001195799.2:c.2269_2278delinsCTCCTCGTCT	NP_001182728.1:p.Leu757=
NM_001195800.2:c.1888_1897delinsCTCCTCGTCT	NP_001182729.1:p.Leu630=
NM_001195803.2:c.1858_1867delinsCTCCTCGTCT	NP_001182732.1:p.Leu620=