Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11127928_11127940del , CM000681.2:g.11127928_11127940del	GRCh38
NC_000019.9:g.11238604_11238616del , CM000681.1:g.11238604_11238616del	GRCh37
NC_000019.8:g.11099604_11099616del	NCBI36
NG_009060.1:g.43548_43560del , LRG_274:g.43548_43560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2570-80_2570-68del	ENSP00000252444.6:n.2570-80_2570-68del
ENST00000559340.2:c.381-80_381-68del	ENSP00000453696.2:n.381-80_381-68del
ENST00000560467.2:c.2192-80_2192-68del	ENSP00000453513.2:n.2192-80_2192-68del
ENST00000558518.6:c.2312-80_2312-68del MANE Select	ENSP00000454071.1:n.2312-80_2312-68del
ENST00000252444.9:c.2566-80_2566-68del
ENST00000455727.6:c.1808-80_1808-68del	ENSP00000397829.2:n.1808-80_1808-68del
ENST00000535915.5:c.2189-80_2189-68del	ENSP00000440520.1:n.2189-80_2189-68del
ENST00000545707.5:c.1778-80_1778-68del	ENSP00000437639.1:n.1778-80_1778-68del
ENST00000557933.5:c.2312-80_2312-68del	ENSP00000453557.1:n.2312-80_2312-68del
ENST00000558013.5:c.2312-80_2312-68del	ENSP00000453346.1:n.2312-80_2312-68del
ENST00000558518.5:c.2312-80_2312-68del	ENSP00000454071.1:n.2312-80_2312-68del
ENST00000560628.1:n.108+274_108+286del
NM_000527.4:c.2312-80_2312-68del , LRG_274t1:c.2312-80_2312-68del	NP_000518.1:n.2312-80_2312-68del
NM_001195798.1:c.2312-80_2312-68del	NP_001182727.1:n.2312-80_2312-68del
NM_001195799.1:c.2189-80_2189-68del	NP_001182728.1:n.2189-80_2189-68del
NM_001195800.1:c.1808-80_1808-68del	NP_001182729.1:n.1808-80_1808-68del
NM_001195803.1:c.1778-80_1778-68del	NP_001182732.1:n.1778-80_1778-68del
XM_011528010.1:c.2312-1585_2312-1573del	XP_011526312.1:n.2312-1585_2312-1573del
XM_011528011.1:c.1931-80_1931-68del	XP_011526313.1:n.1931-80_1931-68del
XR_244074.2:n.2322-80_2322-68del
XM_011528010.2:c.2312-1585_2312-1573del	XP_011526312.1:n.2312-1585_2312-1573del
XR_001753685.2:n.2646-80_2646-68del
XR_001753686.2:n.2289-80_2289-68del
NM_000527.5:c.2312-80_2312-68del MANE Select	NP_000518.1:n.2312-80_2312-68del
NM_001195798.2:c.2312-80_2312-68del	NP_001182727.1:n.2312-80_2312-68del
NM_001195799.2:c.2189-80_2189-68del	NP_001182728.1:n.2189-80_2189-68del
NM_001195800.2:c.1808-80_1808-68del	NP_001182729.1:n.1808-80_1808-68del
NM_001195803.2:c.1778-80_1778-68del	NP_001182732.1:n.1778-80_1778-68del