Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234761_48234765dup , CM000677.2:g.48234761_48234765dup	GRCh38
NC_000015.9:g.48526958_48526962dup , CM000677.1:g.48526958_48526962dup	GRCh37
NC_000015.8:g.46314250_46314254dup	NCBI36
NG_021301.1:g.33461_33465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.1088-116_1088-112dup	ENSP00000508901.1:n.1088-116_1088-112dup
ENST00000380993.8:c.1088-116_1088-112dup MANE Select	ENSP00000370381.3:n.1088-116_1088-112dup
ENST00000646012.1:c.1226-116_1226-112dup	ENSP00000495813.1:n.1226-116_1226-112dup
ENST00000647232.1:c.1088-116_1088-112dup	ENSP00000493875.1:n.1088-116_1088-112dup
ENST00000647546.1:c.1088-116_1088-112dup	ENSP00000495332.1:n.1088-116_1088-112dup
ENST00000330289.10:c.1088-116_1088-112dup	ENSP00000331550.6:n.1088-116_1088-112dup
ENST00000380993.7:c.1088-116_1088-112dup	ENSP00000370381.3:n.1088-116_1088-112dup
ENST00000396577.7:c.1088-116_1088-112dup	ENSP00000379822.3:n.1088-116_1088-112dup
ENST00000558252.5:n.5211-116_5211-112dup
ENST00000558405.5:c.1088-116_1088-112dup	ENSP00000453409.1:n.1088-116_1088-112dup
ENST00000558805.1:c.115-116_115-112dup
ENST00000559641.5:c.527-116_527-112dup	ENSP00000453230.1:n.527-116_527-112dup
ENST00000559723.2:n.461-116_461-112dup
ENST00000560692.5:n.5227-116_5227-112dup
NM_000338.2:c.1088-116_1088-112dup	NP_000329.2:n.1088-116_1088-112dup
NM_001184832.1:c.1088-116_1088-112dup	NP_001171761.1:n.1088-116_1088-112dup
XM_005254605.1:c.1184-116_1184-112dup	XP_005254662.1:n.1184-116_1184-112dup
XM_005254606.1:c.1088-116_1088-112dup	XP_005254663.1:n.1088-116_1088-112dup
XM_006720656.1:c.1184-116_1184-112dup	XP_006720719.1:n.1184-116_1184-112dup
XR_931896.1:n.1400-116_1400-112dup
XM_005254606.2:c.1088-116_1088-112dup	XP_005254663.1:n.1088-116_1088-112dup
NM_000338.3:c.1088-116_1088-112dup MANE Select	NP_000329.2:n.1088-116_1088-112dup
NM_001184832.2:c.1088-116_1088-112dup	NP_001171761.1:n.1088-116_1088-112dup
NM_001384136.1:c.1088-116_1088-112dup	NP_001371065.1:n.1088-116_1088-112dup