Canonical Allele Identifier: CA3271833331

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298395del , CM000672.2:g.94298395del	GRCh38
NC_000010.10:g.96058152del , CM000672.1:g.96058152del	GRCh37
NC_000010.9:g.96048142del	NCBI36
NG_015799.1:g.309407del

Transcript Alleles

HGVS	Amino-acid Change
NM_016341.4:c.5184del MANE Select	NP_057425.3:p.Arg1729AspfsTer?
ENST00000371380.8:c.5184del MANE Select	ENSP00000360431.2:p.Arg1729AspfsTer?
NM_001165979.2:c.4260del	NP_001159451.1:p.Arg1421AspfsTer?
NM_001288989.1:c.5136del	NP_001275918.1:p.Arg1713AspfsTer?
NM_001288989.2:c.5136del	NP_001275918.1:p.Arg1713AspfsTer?
NM_016341.3:c.5184del	NP_057425.3:p.Arg1729AspfsTer?
ENST00000260766.7:c.5184del	ENSP00000260766.3:p.Arg1729AspfsTer?
ENST00000371375.1:c.4260del	ENSP00000360426.1:p.Arg1421AspfsTer?
ENST00000371375.2:c.4260del	ENSP00000360426.1:p.Arg1421AspfsTer?
ENST00000371380.7:c.5184del	ENSP00000360431.2:p.Arg1729AspfsTer?
ENST00000371385.7:c.4260del	ENSP00000360438.3:p.Arg1421AspfsTer?
ENST00000371385.8:c.4158del	ENSP00000360438.4:p.Arg1387AspfsTer?
ENST00000674738.1:c.3739del
ENST00000674827.1:c.3300del	ENSP00000502523.1:p.Arg1101AspfsTer?
ENST00000675218.1:c.4260del	ENSP00000501910.1:p.Arg1421AspfsTer?
ENST00000675487.1:c.*1117del	ENSP00000502340.1:n.*1117del
ENST00000675718.1:c.4453del
ENST00000676102.1:c.4029del	ENSP00000502811.1:p.Arg1344AspfsTer?
ENST00000685253.1:c.*1727del	ENSP00000509405.1:n.*1727del
ENST00000685889.1:n.1919del
ENST00000686807.1:n.603del
ENST00000686954.1:c.*468del	ENSP00000508416.1:n.*468del
ENST00000688810.1:c.4212del	ENSP00000509140.1:p.Arg1405AspfsTer?
ENST00000689233.1:n.9392del
ENST00000690340.1:n.2857del
ENST00000692286.1:c.5052del	ENSP00000509490.1:p.Arg1685AspfsTer?
ENST00000692396.1:c.5136del	ENSP00000508605.1:p.Arg1713AspfsTer?
XM_006717885.2:c.5226del	XP_006717948.1:p.Arg1743AspfsTer?
XM_006717885.4:c.5226del	XP_006717948.1:p.Arg1743AspfsTer?
XM_006717886.2:c.5226del	XP_006717949.1:p.Arg1743AspfsTer?
XM_006717888.2:c.5223del	XP_006717951.1:p.Arg1742AspfsTer?
XM_006717888.4:c.5223del	XP_006717951.1:p.Arg1742AspfsTer?
XM_006717889.2:c.5178del	XP_006717952.1:p.Arg1727AspfsTer?
XM_006717889.4:c.5178del	XP_006717952.1:p.Arg1727AspfsTer?
XM_006717890.1:c.4302del	XP_006717953.1:p.Arg1435AspfsTer?
XM_006717890.3:c.4302del	XP_006717953.1:p.Arg1435AspfsTer?
XM_011539849.1:c.5226del	XP_011538151.1:p.Arg1743AspfsTer?
XM_011539849.3:c.5226del	XP_011538151.1:p.Arg1743AspfsTer?
XM_011539850.1:c.4071del	XP_011538152.1:p.Arg1358AspfsTer?
XM_011539850.3:c.4071del	XP_011538152.1:p.Arg1358AspfsTer?
XM_017016310.2:c.5226del	XP_016871799.1:p.Arg1743AspfsTer?
XM_017016311.2:c.5226del	XP_016871800.1:p.Arg1743AspfsTer?
XM_017016312.2:c.4212del	XP_016871801.1:p.Arg1405AspfsTer?