Canonical Allele Identifier: CA2573332764

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298621_94298622del , CM000672.2:g.94298621_94298622del	GRCh38
NC_000010.10:g.96058378_96058379del , CM000672.1:g.96058378_96058379del	GRCh37
NC_000010.9:g.96048368_96048369del	NCBI36
NG_015799.1:g.309633_309634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4486_4487del	ENSP00000360426.1:p.Phe1496LeufsTer15
ENST00000685253.1:c.*1953_*1954del	ENSP00000509405.1:n.*1953_*1954del
ENST00000685889.1:n.2145_2146del
ENST00000686807.1:n.829_830del
ENST00000686954.1:c.*694_*695del	ENSP00000508416.1:n.*694_*695del
ENST00000688810.1:c.4438_4439del	ENSP00000509140.1:p.Phe1480LeufsTer15
ENST00000689233.1:n.9618_9619del
ENST00000690340.1:n.3083_3084del
ENST00000692286.1:c.5278_5279del	ENSP00000509490.1:p.Phe1760LeufsTer15
ENST00000692396.1:c.5362_5363del	ENSP00000508605.1:p.Phe1788LeufsTer15
ENST00000371380.8:c.5410_5411del MANE Select	ENSP00000360431.2:p.Phe1804LeufsTer15
ENST00000371385.8:c.4384_4385del	ENSP00000360438.4:p.Phe1462LeufsTer15
ENST00000674738.1:c.3965_3966del
ENST00000674827.1:c.3526_3527del	ENSP00000502523.1:p.Phe1176LeufsTer15
ENST00000675218.1:c.4486_4487del	ENSP00000501910.1:p.Phe1496LeufsTer15
ENST00000675487.1:c.*1343_*1344del	ENSP00000502340.1:n.*1343_*1344del
ENST00000675718.1:c.4679_4680del
ENST00000260766.7:c.5410_5411del	ENSP00000260766.3:p.Phe1804LeufsTer15
ENST00000371375.1:c.4486_4487del	ENSP00000360426.1:p.Phe1496LeufsTer15
ENST00000371380.7:c.5410_5411del	ENSP00000360431.2:p.Phe1804LeufsTer15
ENST00000371385.7:c.4486_4487del	ENSP00000360438.3:p.Phe1496LeufsTer15
NM_001165979.2:c.4486_4487del	NP_001159451.1:p.Phe1496LeufsTer15
NM_001288989.1:c.5362_5363del	NP_001275918.1:p.Phe1788LeufsTer15
NM_016341.3:c.5410_5411del	NP_057425.3:p.Phe1804LeufsTer15
XM_006717885.2:c.5452_5453del	XP_006717948.1:p.Phe1818LeufsTer15
XM_006717886.2:c.5452_5453del	XP_006717949.1:p.Phe1818LeufsTer15
XM_006717888.2:c.5449_5450del	XP_006717951.1:p.Phe1817LeufsTer15
XM_006717889.2:c.5404_5405del	XP_006717952.1:p.Phe1802LeufsTer15
XM_006717890.1:c.4528_4529del	XP_006717953.1:p.Phe1510LeufsTer15
XM_011539849.1:c.5452_5453del	XP_011538151.1:p.Phe1818LeufsTer15
XM_011539850.1:c.4297_4298del	XP_011538152.1:p.Phe1433LeufsTer15
XM_006717885.4:c.5452_5453del	XP_006717948.1:p.Phe1818LeufsTer15
XM_006717888.4:c.5449_5450del	XP_006717951.1:p.Phe1817LeufsTer15
XM_006717889.4:c.5404_5405del	XP_006717952.1:p.Phe1802LeufsTer15
XM_006717890.3:c.4528_4529del	XP_006717953.1:p.Phe1510LeufsTer15
XM_011539849.3:c.5452_5453del	XP_011538151.1:p.Phe1818LeufsTer15
XM_011539850.3:c.4297_4298del	XP_011538152.1:p.Phe1433LeufsTer15
XM_017016310.2:c.5452_5453del	XP_016871799.1:p.Phe1818LeufsTer15
XM_017016311.2:c.5452_5453del	XP_016871800.1:p.Phe1818LeufsTer15
XM_017016312.2:c.4438_4439del	XP_016871801.1:p.Phe1480LeufsTer15
NM_001288989.2:c.5362_5363del	NP_001275918.1:p.Phe1788LeufsTer15
NM_016341.4:c.5410_5411del MANE Select	NP_057425.3:p.Phe1804LeufsTer15