Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11127955_11127959dup , CM000681.2:g.11127955_11127959dup	GRCh38
NC_000019.9:g.11238631_11238635dup , CM000681.1:g.11238631_11238635dup	GRCh37
NC_000019.8:g.11099631_11099635dup	NCBI36
NG_009060.1:g.43575_43579dup , LRG_274:g.43575_43579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2570-53_2570-49dup	ENSP00000252444.6:n.2570-53_2570-49dup
ENST00000559340.2:c.381-53_381-49dup	ENSP00000453696.2:n.381-53_381-49dup
ENST00000560467.2:c.2192-53_2192-49dup	ENSP00000453513.2:n.2192-53_2192-49dup
ENST00000558518.6:c.2312-53_2312-49dup MANE Select	ENSP00000454071.1:n.2312-53_2312-49dup
ENST00000252444.9:c.2566-53_2566-49dup
ENST00000455727.6:c.1808-53_1808-49dup	ENSP00000397829.2:n.1808-53_1808-49dup
ENST00000535915.5:c.2189-53_2189-49dup	ENSP00000440520.1:n.2189-53_2189-49dup
ENST00000545707.5:c.1778-53_1778-49dup	ENSP00000437639.1:n.1778-53_1778-49dup
ENST00000557933.5:c.2312-53_2312-49dup	ENSP00000453557.1:n.2312-53_2312-49dup
ENST00000558013.5:c.2312-53_2312-49dup	ENSP00000453346.1:n.2312-53_2312-49dup
ENST00000558518.5:c.2312-53_2312-49dup	ENSP00000454071.1:n.2312-53_2312-49dup
ENST00000560628.1:n.108+301_108+305dup
NM_000527.4:c.2312-53_2312-49dup , LRG_274t1:c.2312-53_2312-49dup	NP_000518.1:n.2312-53_2312-49dup
NM_001195798.1:c.2312-53_2312-49dup	NP_001182727.1:n.2312-53_2312-49dup
NM_001195799.1:c.2189-53_2189-49dup	NP_001182728.1:n.2189-53_2189-49dup
NM_001195800.1:c.1808-53_1808-49dup	NP_001182729.1:n.1808-53_1808-49dup
NM_001195803.1:c.1778-53_1778-49dup	NP_001182732.1:n.1778-53_1778-49dup
XM_011528010.1:c.2312-1558_2312-1554dup	XP_011526312.1:n.2312-1558_2312-1554dup
XM_011528011.1:c.1931-53_1931-49dup	XP_011526313.1:n.1931-53_1931-49dup
XR_244074.2:n.2322-53_2322-49dup
XM_011528010.2:c.2312-1558_2312-1554dup	XP_011526312.1:n.2312-1558_2312-1554dup
XR_001753685.2:n.2646-53_2646-49dup
XR_001753686.2:n.2289-53_2289-49dup
NM_000527.5:c.2312-53_2312-49dup MANE Select	NP_000518.1:n.2312-53_2312-49dup
NM_001195798.2:c.2312-53_2312-49dup	NP_001182727.1:n.2312-53_2312-49dup
NM_001195799.2:c.2189-53_2189-49dup	NP_001182728.1:n.2189-53_2189-49dup
NM_001195800.2:c.1808-53_1808-49dup	NP_001182729.1:n.1808-53_1808-49dup
NM_001195803.2:c.1778-53_1778-49dup	NP_001182732.1:n.1778-53_1778-49dup