Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145558_44145571del , CM000669.2:g.44145558_44145571del	GRCh38
NC_000007.13:g.44185157_44185170del , CM000669.1:g.44185157_44185170del	GRCh37
NC_000007.12:g.44151682_44151695del	NCBI36
NG_008847.1:g.48856_48869del
NG_008847.2:g.57603_57616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1180_1193del	ENSP00000379142.4:n.1180_1193del
ENST00000616242.5:c.302_315del	ENSP00000482149.2:n.302_315del
ENST00000683378.1:n.408_421del
ENST00000336642.9:c.216_229del	ENSP00000338009.5:p.Glu73GlyfsTer?
ENST00000345378.7:c.1185_1198del	ENSP00000223366.2:p.Glu396GlyfsTer?
ENST00000403799.8:c.1182_1195del MANE Select	ENSP00000384247.3:p.Glu395GlyfsTer?
ENST00000671824.1:c.1245_1258del	ENSP00000500264.1:p.Glu416GlyfsTer?
ENST00000672743.1:n.194_207del
ENST00000673284.1:c.1182_1195del	ENSP00000499852.1:p.Glu395GlyfsTer?
ENST00000336642.8:c.234_247del	ENSP00000338009.4:p.Glu79GlyfsTer?
ENST00000345378.6:c.1185_1198del	ENSP00000223366.2:p.Glu396GlyfsTer?
ENST00000395796.7:c.1179_1192del	ENSP00000379142.3:p.Glu394GlyfsTer?
ENST00000403799.7:c.1182_1195del	ENSP00000384247.3:p.Glu395GlyfsTer?
ENST00000437084.1:c.1131_1144del	ENSP00000402840.1:p.Glu378GlyfsTer?
ENST00000459642.1:n.562_575del
ENST00000616242.4:c.1179_1192del	ENSP00000482149.1:p.Glu394GlyfsTer?
NM_000162.3:c.1182_1195del	NP_000153.1:p.Glu395GlyfsTer?
NM_033507.1:c.1185_1198del	NP_277042.1:p.Glu396GlyfsTer?
NM_033508.1:c.1179_1192del	NP_277043.1:p.Glu394GlyfsTer?
NM_000162.4:c.1182_1195del	NP_000153.1:p.Glu395GlyfsTer?
NM_001354800.1:c.1182_1195del	NP_001341729.1:p.Glu395GlyfsTer?
NM_001354801.1:c.171_184del	NP_001341730.1:p.Glu58GlyfsTer?
NM_001354802.1:c.42_55del	NP_001341731.1:p.Glu15GlyfsTer?
NM_001354803.1:c.216_229del	NP_001341732.1:p.Glu73GlyfsTer?
NM_033507.2:c.1185_1198del	NP_277042.1:p.Glu396GlyfsTer?
NM_033508.2:c.1179_1192del	NP_277043.1:p.Glu394GlyfsTer?
XM_024446707.1:c.42_55del	XP_024302475.1:p.Glu15GlyfsTer?
NM_000162.5:c.1182_1195del MANE Select	NP_000153.1:p.Glu395GlyfsTer?
NM_033507.3:c.1185_1198del	NP_277042.1:p.Glu396GlyfsTer?
NM_033508.3:c.1179_1192del	NP_277043.1:p.Glu394GlyfsTer?
NM_001354803.2:c.216_229del	NP_001341732.1:p.Glu73GlyfsTer?