Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145558_44145568del , CM000669.2:g.44145558_44145568del	GRCh38
NC_000007.13:g.44185157_44185167del , CM000669.1:g.44185157_44185167del	GRCh37
NC_000007.12:g.44151682_44151692del	NCBI36
NG_008847.1:g.48856_48866del
NG_008847.2:g.57603_57613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1180_1190del	ENSP00000379142.4:n.1180_1190del
ENST00000616242.5:c.302_312del	ENSP00000482149.2:n.302_312del
ENST00000683378.1:n.408_418del
ENST00000336642.9:c.216_226del	ENSP00000338009.5:p.Glu73ArgfsTer?
ENST00000345378.7:c.1185_1195del	ENSP00000223366.2:p.Glu396ArgfsTer?
ENST00000403799.8:c.1182_1192del MANE Select	ENSP00000384247.3:p.Glu395ArgfsTer?
ENST00000671824.1:c.1245_1255del	ENSP00000500264.1:p.Glu416ArgfsTer?
ENST00000672743.1:n.194_204del
ENST00000673284.1:c.1182_1192del	ENSP00000499852.1:p.Glu395ArgfsTer?
ENST00000336642.8:c.234_244del	ENSP00000338009.4:p.Glu79ArgfsTer?
ENST00000345378.6:c.1185_1195del	ENSP00000223366.2:p.Glu396ArgfsTer?
ENST00000395796.7:c.1179_1189del	ENSP00000379142.3:p.Glu394ArgfsTer?
ENST00000403799.7:c.1182_1192del	ENSP00000384247.3:p.Glu395ArgfsTer?
ENST00000437084.1:c.1131_1141del	ENSP00000402840.1:p.Glu378ArgfsTer?
ENST00000459642.1:n.562_572del
ENST00000616242.4:c.1179_1189del	ENSP00000482149.1:p.Glu394ArgfsTer?
NM_000162.3:c.1182_1192del	NP_000153.1:p.Glu395ArgfsTer?
NM_033507.1:c.1185_1195del	NP_277042.1:p.Glu396ArgfsTer?
NM_033508.1:c.1179_1189del	NP_277043.1:p.Glu394ArgfsTer?
NM_000162.4:c.1182_1192del	NP_000153.1:p.Glu395ArgfsTer?
NM_001354800.1:c.1182_1192del	NP_001341729.1:p.Glu395ArgfsTer?
NM_001354801.1:c.171_181del	NP_001341730.1:p.Glu58ArgfsTer?
NM_001354802.1:c.42_52del	NP_001341731.1:p.Glu15ArgfsTer?
NM_001354803.1:c.216_226del	NP_001341732.1:p.Glu73ArgfsTer?
NM_033507.2:c.1185_1195del	NP_277042.1:p.Glu396ArgfsTer?
NM_033508.2:c.1179_1189del	NP_277043.1:p.Glu394ArgfsTer?
XM_024446707.1:c.42_52del	XP_024302475.1:p.Glu15ArgfsTer?
NM_000162.5:c.1182_1192del MANE Select	NP_000153.1:p.Glu395ArgfsTer?
NM_033507.3:c.1185_1195del	NP_277042.1:p.Glu396ArgfsTer?
NM_033508.3:c.1179_1189del	NP_277043.1:p.Glu394ArgfsTer?
NM_001354803.2:c.216_226del	NP_001341732.1:p.Glu73ArgfsTer?