Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224696dup , CM000679.2:g.7224696dup	GRCh38
NC_000017.10:g.7128015dup , CM000679.1:g.7128015dup	GRCh37
NC_000017.9:g.7068739dup	NCBI36
NG_007975.1:g.9863dup
NG_008391.2:g.355dup
NG_033038.1:g.14849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1733dup MANE Select	ENSP00000349297.5:p.Met578IlefsTer14
ENST00000322910.9:c.*1688dup	ENSP00000325395.5:n.*1688dup
ENST00000350303.9:c.1667dup	ENSP00000344152.5:p.Met556IlefsTer14
ENST00000356839.9:c.1733dup	ENSP00000349297.5:p.Met578IlefsTer14
ENST00000542255.6:c.537-19dup
ENST00000543245.6:c.1802dup	ENSP00000438689.2:p.Met601IlefsTer14
ENST00000578033.1:n.64dup
ENST00000578319.5:n.314dup
ENST00000578711.1:n.1192dup
ENST00000578809.5:n.305dup
ENST00000579425.5:n.849dup
ENST00000579546.1:c.468dup
ENST00000583074.5:n.300-19dup
ENST00000583848.5:c.99dup	ENSP00000466487.1:p.Gly34TrpfsTer12
ENST00000583850.5:n.504dup
ENST00000583858.5:c.664dup
ENST00000585203.6:n.924dup
NM_000018.3:c.1733dup	NP_000009.1:p.Met578IlefsTer14
NM_001033859.2:c.1667dup	NP_001029031.1:p.Met556IlefsTer14
NM_001270447.1:c.1802dup	NP_001257376.1:p.Met601IlefsTer14
NM_001270448.1:c.1505dup	NP_001257377.1:p.Met502IlefsTer14
XM_006721516.2:c.1679-19dup	XP_006721579.2:n.1679-19dup
XM_011523829.1:c.1577-19dup	XP_011522131.1:n.1577-19dup
XM_011523830.1:c.1631dup	XP_011522132.1:p.Met544IlefsTer14
XR_934021.1:n.1836dup
XR_934022.1:n.1742dup
XR_934023.1:n.1688-19dup
XM_006721516.3:c.1679-19dup	XP_006721579.2:n.1679-19dup
XM_011523829.2:c.1577-19dup	XP_011522131.1:n.1577-19dup
XM_011523830.2:c.1631dup	XP_011522132.1:p.Met544IlefsTer14
XM_024450741.1:c.1721dup	XP_024306509.1:p.Met574IlefsTer14
XR_934021.2:n.1788dup
XR_934022.2:n.1694dup
XR_934023.2:n.1640-19dup
NM_000018.4:c.1733dup MANE Select	NP_000009.1:p.Met578IlefsTer14
NM_001033859.3:c.1667dup	NP_001029031.1:p.Met556IlefsTer14
NM_001270447.2:c.1802dup	NP_001257376.1:p.Met601IlefsTer14
NM_001270448.2:c.1505dup	NP_001257377.1:p.Met502IlefsTer14