Canonical Allele Identifier: CA2789048722

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298556_94298557insGG , CM000672.2:g.94298556_94298557insGG	GRCh38
NC_000010.10:g.96058313_96058314insGG , CM000672.1:g.96058313_96058314insGG	GRCh37
NC_000010.9:g.96048303_96048304insGG	NCBI36
NG_015799.1:g.309568_309569insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4421_4422insGG	ENSP00000360426.1:p.Cys1474TrpfsTer5
ENST00000685253.1:c.*1888_*1889insGG	ENSP00000509405.1:n.*1888_*1889insGG
ENST00000685889.1:n.2080_2081insGG
ENST00000686807.1:n.764_765insGG
ENST00000686954.1:c.*629_*630insGG	ENSP00000508416.1:n.*629_*630insGG
ENST00000688810.1:c.4373_4374insGG	ENSP00000509140.1:p.Cys1458TrpfsTer5
ENST00000689233.1:n.9553_9554insGG
ENST00000690340.1:n.3018_3019insGG
ENST00000692286.1:c.5213_5214insGG	ENSP00000509490.1:p.Cys1738TrpfsTer5
ENST00000692396.1:c.5297_5298insGG	ENSP00000508605.1:p.Cys1766TrpfsTer5
ENST00000371380.8:c.5345_5346insGG MANE Select	ENSP00000360431.2:p.Cys1782TrpfsTer5
ENST00000371385.8:c.4319_4320insGG	ENSP00000360438.4:p.Cys1440TrpfsTer5
ENST00000674738.1:c.3900_3901insGG
ENST00000674827.1:c.3461_3462insGG	ENSP00000502523.1:p.Cys1154TrpfsTer5
ENST00000675218.1:c.4421_4422insGG	ENSP00000501910.1:p.Cys1474TrpfsTer5
ENST00000675487.1:c.*1278_*1279insGG	ENSP00000502340.1:n.*1278_*1279insGG
ENST00000675718.1:c.4614_4615insGG
ENST00000260766.7:c.5345_5346insGG	ENSP00000260766.3:p.Cys1782TrpfsTer5
ENST00000371375.1:c.4421_4422insGG	ENSP00000360426.1:p.Cys1474TrpfsTer5
ENST00000371380.7:c.5345_5346insGG	ENSP00000360431.2:p.Cys1782TrpfsTer5
ENST00000371385.7:c.4421_4422insGG	ENSP00000360438.3:p.Cys1474TrpfsTer5
NM_001165979.2:c.4421_4422insGG	NP_001159451.1:p.Cys1474TrpfsTer5
NM_001288989.1:c.5297_5298insGG	NP_001275918.1:p.Cys1766TrpfsTer5
NM_016341.3:c.5345_5346insGG	NP_057425.3:p.Cys1782TrpfsTer5
XM_006717885.2:c.5387_5388insGG	XP_006717948.1:p.Cys1796TrpfsTer5
XM_006717886.2:c.5387_5388insGG	XP_006717949.1:p.Cys1796TrpfsTer5
XM_006717888.2:c.5384_5385insGG	XP_006717951.1:p.Cys1795TrpfsTer5
XM_006717889.2:c.5339_5340insGG	XP_006717952.1:p.Cys1780TrpfsTer5
XM_006717890.1:c.4463_4464insGG	XP_006717953.1:p.Cys1488TrpfsTer5
XM_011539849.1:c.5387_5388insGG	XP_011538151.1:p.Cys1796TrpfsTer5
XM_011539850.1:c.4232_4233insGG	XP_011538152.1:p.Cys1411TrpfsTer5
XM_006717885.4:c.5387_5388insGG	XP_006717948.1:p.Cys1796TrpfsTer5
XM_006717888.4:c.5384_5385insGG	XP_006717951.1:p.Cys1795TrpfsTer5
XM_006717889.4:c.5339_5340insGG	XP_006717952.1:p.Cys1780TrpfsTer5
XM_006717890.3:c.4463_4464insGG	XP_006717953.1:p.Cys1488TrpfsTer5
XM_011539849.3:c.5387_5388insGG	XP_011538151.1:p.Cys1796TrpfsTer5
XM_011539850.3:c.4232_4233insGG	XP_011538152.1:p.Cys1411TrpfsTer5
XM_017016310.2:c.5387_5388insGG	XP_016871799.1:p.Cys1796TrpfsTer5
XM_017016311.2:c.5387_5388insGG	XP_016871800.1:p.Cys1796TrpfsTer5
XM_017016312.2:c.4373_4374insGG	XP_016871801.1:p.Cys1458TrpfsTer5
NM_001288989.2:c.5297_5298insGG	NP_001275918.1:p.Cys1766TrpfsTer5
NM_016341.4:c.5345_5346insGG MANE Select	NP_057425.3:p.Cys1782TrpfsTer5