Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955384_150955387dup , CM000669.2:g.150955384_150955387dup	GRCh38
NC_000007.13:g.150652472_150652475dup , CM000669.1:g.150652472_150652475dup	GRCh37
NC_000007.12:g.150283405_150283408dup	NCBI36
NG_008916.1:g.27541_27544dup , LRG_288:g.27541_27544dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.426+10_426+13dup
ENST00000684241.1:n.1961+1905_1961+1908dup
ENST00000262186.10:c.1128+1905_1128+1908dup MANE Select	ENSP00000262186.5:n.1128+1905_1128+1908dup
ENST00000330883.9:c.108+10_108+13dup	ENSP00000328531.4:n.108+10_108+13dup
ENST00000262186.9:c.1128+1905_1128+1908dup	ENSP00000262186.5:n.1128+1905_1128+1908dup
ENST00000330883.8:c.108+10_108+13dup	ENSP00000328531.4:n.108+10_108+13dup
ENST00000430723.4:c.780+1905_780+1908dup	ENSP00000387657.4:n.780+1905_780+1908dup
ENST00000461280.1:n.415+10_415+13dup
ENST00000473610.5:n.433+10_433+13dup
ENST00000532957.5:n.1351+1905_1351+1908dup
NM_000238.3:c.1128+1905_1128+1908dup , LRG_288t1:c.1128+1905_1128+1908dup	NP_000229.1:n.1128+1905_1128+1908dup
NM_001204798.1:c.108+10_108+13dup	NP_001191727.1:n.108+10_108+13dup
NM_172056.2:c.1128+1905_1128+1908dup , LRG_288t2:c.1128+1905_1128+1908dup	NP_742053.1:n.1128+1905_1128+1908dup
NM_172057.2:c.108+10_108+13dup , LRG_288t3:c.108+10_108+13dup	NP_742054.1:n.108+10_108+13dup
XM_011516185.1:c.828+1905_828+1908dup	XP_011514487.1:n.828+1905_828+1908dup
XM_011516186.1:c.1128+1905_1128+1908dup	XP_011514488.1:n.1128+1905_1128+1908dup
XM_011516185.2:c.828+1905_828+1908dup	XP_011514487.1:n.828+1905_828+1908dup
XM_011516186.3:c.1128+1905_1128+1908dup	XP_011514488.1:n.1128+1905_1128+1908dup
XM_017012195.1:c.978+1905_978+1908dup	XP_016867684.1:n.978+1905_978+1908dup
XM_017012196.1:c.951+1905_951+1908dup	XP_016867685.1:n.951+1905_951+1908dup
NM_000238.4:c.1128+1905_1128+1908dup MANE Select	NP_000229.1:n.1128+1905_1128+1908dup
NM_001204798.2:c.108+10_108+13dup	NP_001191727.1:n.108+10_108+13dup
NM_172057.3:c.108+10_108+13dup	NP_742054.1:n.108+10_108+13dup