Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222586_7222587delinsCA , CM000679.2:g.7222586_7222587delinsCA	GRCh38
NC_000017.10:g.7125905_7125906delinsCA , CM000679.1:g.7125905_7125906delinsCA	GRCh37
NC_000017.9:g.7066629_7066630delinsCA	NCBI36
NG_007975.1:g.7753_7754delinsCA
NG_008391.2:g.2464_2465delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.879-81_879-80delinsCA MANE Select	ENSP00000349297.5:n.879-81_879-80delinsCA
ENST00000322910.9:c.834-81_834-80delinsCA	ENSP00000325395.5:n.834-81_834-80delinsCA
ENST00000350303.9:c.813-81_813-80delinsCA	ENSP00000344152.5:n.813-81_813-80delinsCA
ENST00000356839.9:c.879-81_879-80delinsCA	ENSP00000349297.5:n.879-81_879-80delinsCA
ENST00000543245.6:c.948-81_948-80delinsCA	ENSP00000438689.2:n.948-81_948-80delinsCA
ENST00000581378.5:c.597-81_597-80delinsCA
ENST00000582379.1:n.263-81_263-80delinsCA
NM_000018.3:c.879-81_879-80delinsCA	NP_000009.1:n.879-81_879-80delinsCA
NM_001033859.2:c.813-81_813-80delinsCA	NP_001029031.1:n.813-81_813-80delinsCA
NM_001270447.1:c.948-81_948-80delinsCA	NP_001257376.1:n.948-81_948-80delinsCA
NM_001270448.1:c.651-81_651-80delinsCA	NP_001257377.1:n.651-81_651-80delinsCA
XM_006721516.2:c.879-81_879-80delinsCA	XP_006721579.2:n.879-81_879-80delinsCA
XM_011523829.1:c.879-81_879-80delinsCA	XP_011522131.1:n.879-81_879-80delinsCA
XM_011523830.1:c.879-81_879-80delinsCA	XP_011522132.1:n.879-81_879-80delinsCA
XR_934021.1:n.986-81_986-80delinsCA
XR_934022.1:n.986-81_986-80delinsCA
XR_934023.1:n.986-81_986-80delinsCA
XM_006721516.3:c.879-81_879-80delinsCA	XP_006721579.2:n.879-81_879-80delinsCA
XM_011523829.2:c.879-81_879-80delinsCA	XP_011522131.1:n.879-81_879-80delinsCA
XM_011523830.2:c.879-81_879-80delinsCA	XP_011522132.1:n.879-81_879-80delinsCA
XM_024450741.1:c.879-81_879-80delinsCA	XP_024306509.1:n.879-81_879-80delinsCA
XR_934021.2:n.938-81_938-80delinsCA
XR_934022.2:n.938-81_938-80delinsCA
XR_934023.2:n.938-81_938-80delinsCA
NM_000018.4:c.879-81_879-80delinsCA MANE Select	NP_000009.1:n.879-81_879-80delinsCA
NM_001033859.3:c.813-81_813-80delinsCA	NP_001029031.1:n.813-81_813-80delinsCA
NM_001270447.2:c.948-81_948-80delinsCA	NP_001257376.1:n.948-81_948-80delinsCA
NM_001270448.2:c.651-81_651-80delinsCA	NP_001257377.1:n.651-81_651-80delinsCA