Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476459_47476461delinsGCA , CM000664.2:g.47476459_47476461delinsGCA	GRCh38
NC_000002.11:g.47703598_47703600delinsGCA , CM000664.1:g.47703598_47703600delinsGCA	GRCh37
NC_000002.10:g.47557102_47557104delinsGCA	NCBI36
NG_007110.2:g.78336_78338delinsGCA , LRG_218:g.78336_78338delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2098_2100delinsGCA	ENSP00000495641.2:p.Ala700=
ENST00000233146.7:c.2098_2100delinsGCA MANE Select	ENSP00000233146.2:p.Ala700=
ENST00000543555.6:c.1900_1902delinsGCA	ENSP00000442697.1:p.Ala634=
ENST00000644092.1:c.398_400delinsGCA	ENSP00000496351.1:n.398_400delinsGCA
ENST00000645339.1:c.2098_2100delinsGCA	ENSP00000496441.1:p.Ala700=
ENST00000645506.1:c.2098_2100delinsGCA	ENSP00000495455.1:p.Ala700=
ENST00000646415.1:c.2098_2100delinsGCA	ENSP00000495543.1:p.Ala700=
ENST00000233146.6:c.2098_2100delinsGCA	ENSP00000233146.2:p.Ala700=
ENST00000406134.5:c.2098_2100delinsGCA	ENSP00000384199.1:p.Ala700=
ENST00000543555.5:c.1900_1902delinsGCA	ENSP00000442697.1:p.Ala634=
ENST00000610696.4:c.494_496delinsGCA	ENSP00000483159.1:n.494_496delinsGCA
ENST00000613514.4:c.638_640delinsGCA	ENSP00000484137.1:n.638_640delinsGCA
ENST00000617333.3:c.864_866delinsGCA	ENSP00000482468.1:n.864_866delinsGCA
ENST00000617938.4:c.1070_1072delinsGCA	ENSP00000481158.1:n.1070_1072delinsGCA
ENST00000621359.2:c.2098_2100delinsGCA	ENSP00000481416.1:p.Ala700=
NM_000251.2:c.2098_2100delinsGCA , LRG_218t1:c.2098_2100delinsGCA	NP_000242.1:p.Ala700=
NM_001258281.1:c.1900_1902delinsGCA	NP_001245210.1:p.Ala634=
XM_005264332.2:c.2098_2100delinsGCA	XP_005264389.2:p.Ala700=
XM_011532867.1:c.2098_2100delinsGCA	XP_011531169.1:p.Ala700=
XR_939685.1:n.2170_2172delinsGCA
XM_005264332.4:c.2098_2100delinsGCA	XP_005264389.2:p.Ala700=
XM_011532867.2:c.2098_2100delinsGCA	XP_011531169.1:p.Ala700=
XR_001738747.2:n.2160_2162delinsGCA
XR_939685.2:n.2160_2162delinsGCA
NM_000251.3:c.2098_2100delinsGCA MANE Select	NP_000242.1:p.Ala700=