Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145564_44145571del , CM000669.2:g.44145564_44145571del	GRCh38
NC_000007.13:g.44185163_44185170del , CM000669.1:g.44185163_44185170del	GRCh37
NC_000007.12:g.44151688_44151695del	NCBI36
NG_008847.1:g.48855_48862del
NG_008847.2:g.57602_57609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1179_1186del	ENSP00000379142.4:n.1179_1186del
ENST00000616242.5:c.301_308del	ENSP00000482149.2:n.301_308del
ENST00000683378.1:n.407_414del
ENST00000336642.9:c.215_222del	ENSP00000338009.5:p.Arg72ProfsTer?
ENST00000345378.7:c.1184_1191del	ENSP00000223366.2:p.Arg395ProfsTer?
ENST00000403799.8:c.1181_1188del MANE Select	ENSP00000384247.3:p.Arg394ProfsTer?
ENST00000671824.1:c.1244_1251del	ENSP00000500264.1:p.Arg415ProfsTer?
ENST00000672743.1:n.193_200del
ENST00000673284.1:c.1181_1188del	ENSP00000499852.1:p.Arg394ProfsTer?
ENST00000336642.8:c.233_240del	ENSP00000338009.4:p.Arg78ProfsTer?
ENST00000345378.6:c.1184_1191del	ENSP00000223366.2:p.Arg395ProfsTer?
ENST00000395796.7:c.1178_1185del	ENSP00000379142.3:p.Arg393ProfsTer?
ENST00000403799.7:c.1181_1188del	ENSP00000384247.3:p.Arg394ProfsTer?
ENST00000437084.1:c.1130_1137del	ENSP00000402840.1:p.Arg377ProfsTer?
ENST00000459642.1:n.561_568del
ENST00000616242.4:c.1178_1185del	ENSP00000482149.1:p.Arg393ProfsTer?
NM_000162.3:c.1181_1188del	NP_000153.1:p.Arg394ProfsTer?
NM_033507.1:c.1184_1191del	NP_277042.1:p.Arg395ProfsTer?
NM_033508.1:c.1178_1185del	NP_277043.1:p.Arg393ProfsTer?
NM_000162.4:c.1181_1188del	NP_000153.1:p.Arg394ProfsTer?
NM_001354800.1:c.1181_1188del	NP_001341729.1:p.Arg394ProfsTer?
NM_001354801.1:c.170_177del	NP_001341730.1:p.Arg57ProfsTer?
NM_001354802.1:c.41_48del	NP_001341731.1:p.Arg14ProfsTer?
NM_001354803.1:c.215_222del	NP_001341732.1:p.Arg72ProfsTer?
NM_033507.2:c.1184_1191del	NP_277042.1:p.Arg395ProfsTer?
NM_033508.2:c.1178_1185del	NP_277043.1:p.Arg393ProfsTer?
XM_024446707.1:c.41_48del	XP_024302475.1:p.Arg14ProfsTer?
NM_000162.5:c.1181_1188del MANE Select	NP_000153.1:p.Arg394ProfsTer?
NM_033507.3:c.1184_1191del	NP_277042.1:p.Arg395ProfsTer?
NM_033508.3:c.1178_1185del	NP_277043.1:p.Arg393ProfsTer?
NM_001354803.2:c.215_222del	NP_001341732.1:p.Arg72ProfsTer?