Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221654_7221655insC , CM000679.2:g.7221654_7221655insC	GRCh38
NC_000017.10:g.7124973_7124974insC , CM000679.1:g.7124973_7124974insC	GRCh37
NC_000017.9:g.7065697_7065698insC	NCBI36
NG_007975.1:g.6821_6822insC
NG_008391.2:g.3396_3397insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.594_595insC MANE Select	ENSP00000349297.5:p.Glu199ArgfsTer?
ENST00000322910.9:c.549_550insC	ENSP00000325395.5:n.549_550insC
ENST00000350303.9:c.528_529insC	ENSP00000344152.5:p.Glu177ArgfsTer?
ENST00000356839.9:c.594_595insC	ENSP00000349297.5:p.Glu199ArgfsTer?
ENST00000543245.6:c.663_664insC	ENSP00000438689.2:p.Glu222ArgfsTer?
ENST00000577191.5:n.671_672insC
ENST00000577433.5:n.802_803insC
ENST00000577857.5:n.410_411insC
ENST00000579286.5:n.775_776insC
ENST00000579886.2:c.432_433insC	ENSP00000463246.1:p.Glu145ArgfsTer?
ENST00000580365.1:n.325_326insC
ENST00000581378.5:c.312_313insC
ENST00000581562.5:n.525-298_525-297insC
ENST00000583312.5:c.594_595insC	ENSP00000467920.1:p.Glu199ArgfsTer?
ENST00000583760.1:n.376_377insC
NM_000018.3:c.594_595insC	NP_000009.1:p.Glu199ArgfsTer?
NM_001033859.2:c.528_529insC	NP_001029031.1:p.Glu177ArgfsTer?
NM_001270447.1:c.663_664insC	NP_001257376.1:p.Glu222ArgfsTer?
NM_001270448.1:c.366_367insC	NP_001257377.1:p.Glu123ArgfsTer?
XM_006721516.2:c.594_595insC	XP_006721579.2:p.Glu199ArgfsTer?
XM_011523829.1:c.594_595insC	XP_011522131.1:p.Glu199ArgfsTer?
XM_011523830.1:c.594_595insC	XP_011522132.1:p.Glu199ArgfsTer?
XR_934021.1:n.701_702insC
XR_934022.1:n.701_702insC
XR_934023.1:n.701_702insC
XM_006721516.3:c.594_595insC	XP_006721579.2:p.Glu199ArgfsTer?
XM_011523829.2:c.594_595insC	XP_011522131.1:p.Glu199ArgfsTer?
XM_011523830.2:c.594_595insC	XP_011522132.1:p.Glu199ArgfsTer?
XM_024450741.1:c.594_595insC	XP_024306509.1:p.Glu199ArgfsTer?
XR_934021.2:n.653_654insC
XR_934022.2:n.653_654insC
XR_934023.2:n.653_654insC
NM_000018.4:c.594_595insC MANE Select	NP_000009.1:p.Glu199ArgfsTer?
NM_001033859.3:c.528_529insC	NP_001029031.1:p.Glu177ArgfsTer?
NM_001270447.2:c.663_664insC	NP_001257376.1:p.Glu222ArgfsTer?
NM_001270448.2:c.366_367insC	NP_001257377.1:p.Glu123ArgfsTer?