Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222848_7222849del , CM000679.2:g.7222848_7222849del	GRCh38
NC_000017.10:g.7126167_7126168del , CM000679.1:g.7126167_7126168del	GRCh37
NC_000017.9:g.7066891_7066892del	NCBI36
NG_007975.1:g.8015_8016del
NG_008391.2:g.2202_2203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1060_1061del MANE Select	ENSP00000349297.5:p.Gly354HisfsTer4
ENST00000322910.9:c.1015_1016del	ENSP00000325395.5:n.1015_1016del
ENST00000350303.9:c.994_995del	ENSP00000344152.5:p.Gly332HisfsTer4
ENST00000356839.9:c.1060_1061del	ENSP00000349297.5:p.Gly354HisfsTer4
ENST00000543245.6:c.1129_1130del	ENSP00000438689.2:p.Gly377HisfsTer4
ENST00000578824.5:n.209_210del
ENST00000582379.1:n.444_445del
ENST00000583858.5:c.89_90del
ENST00000585203.6:n.1_2del
NM_000018.3:c.1060_1061del	NP_000009.1:p.Gly354HisfsTer4
NM_001033859.2:c.994_995del	NP_001029031.1:p.Gly332HisfsTer4
NM_001270447.1:c.1129_1130del	NP_001257376.1:p.Gly377HisfsTer4
NM_001270448.1:c.832_833del	NP_001257377.1:p.Gly278HisfsTer4
XM_006721516.2:c.1060_1061del	XP_006721579.2:p.Gly354HisfsTer4
XM_011523829.1:c.1060_1061del	XP_011522131.1:p.Gly354HisfsTer4
XM_011523830.1:c.1060_1061del	XP_011522132.1:p.Gly354HisfsTer4
XR_934021.1:n.1167_1168del
XR_934022.1:n.1167_1168del
XR_934023.1:n.1167_1168del
XM_006721516.3:c.1060_1061del	XP_006721579.2:p.Gly354HisfsTer4
XM_011523829.2:c.1060_1061del	XP_011522131.1:p.Gly354HisfsTer4
XM_011523830.2:c.1060_1061del	XP_011522132.1:p.Gly354HisfsTer4
XM_024450741.1:c.1060_1061del	XP_024306509.1:p.Gly354HisfsTer4
XR_934021.2:n.1119_1120del
XR_934022.2:n.1119_1120del
XR_934023.2:n.1119_1120del
NM_000018.4:c.1060_1061del MANE Select	NP_000009.1:p.Gly354HisfsTer4
NM_001033859.3:c.994_995del	NP_001029031.1:p.Gly332HisfsTer4
NM_001270447.2:c.1129_1130del	NP_001257376.1:p.Gly377HisfsTer4
NM_001270448.2:c.832_833del	NP_001257377.1:p.Gly278HisfsTer4