Canonical Allele Identifier: CA2789048721

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298546_94298551del , CM000672.2:g.94298546_94298551del	GRCh38
NC_000010.10:g.96058303_96058308del , CM000672.1:g.96058303_96058308del	GRCh37
NC_000010.9:g.96048293_96048298del	NCBI36
NG_015799.1:g.309558_309563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4411_4416del	ENSP00000360426.1:p.His1471_Thr1472del
ENST00000685253.1:c.*1878_*1883del	ENSP00000509405.1:n.*1878_*1883del
ENST00000685889.1:n.2070_2075del
ENST00000686807.1:n.754_759del
ENST00000686954.1:c.*619_*624del	ENSP00000508416.1:n.*619_*624del
ENST00000688810.1:c.4363_4368del	ENSP00000509140.1:p.His1455_Thr1456del
ENST00000689233.1:n.9543_9548del
ENST00000690340.1:n.3008_3013del
ENST00000692286.1:c.5203_5208del	ENSP00000509490.1:p.His1735_Thr1736del
ENST00000692396.1:c.5287_5292del	ENSP00000508605.1:p.His1763_Thr1764del
ENST00000371380.8:c.5335_5340del MANE Select	ENSP00000360431.2:p.His1779_Thr1780del
ENST00000371385.8:c.4309_4314del	ENSP00000360438.4:p.His1437_Thr1438del
ENST00000674738.1:c.3890_3895del
ENST00000674827.1:c.3451_3456del	ENSP00000502523.1:p.His1151_Thr1152del
ENST00000675218.1:c.4411_4416del	ENSP00000501910.1:p.His1471_Thr1472del
ENST00000675487.1:c.*1268_*1273del	ENSP00000502340.1:n.*1268_*1273del
ENST00000675718.1:c.4604_4609del
ENST00000260766.7:c.5335_5340del	ENSP00000260766.3:p.His1779_Thr1780del
ENST00000371375.1:c.4411_4416del	ENSP00000360426.1:p.His1471_Thr1472del
ENST00000371380.7:c.5335_5340del	ENSP00000360431.2:p.His1779_Thr1780del
ENST00000371385.7:c.4411_4416del	ENSP00000360438.3:p.His1471_Thr1472del
NM_001165979.2:c.4411_4416del	NP_001159451.1:p.His1471_Thr1472del
NM_001288989.1:c.5287_5292del	NP_001275918.1:p.His1763_Thr1764del
NM_016341.3:c.5335_5340del	NP_057425.3:p.His1779_Thr1780del
XM_006717885.2:c.5377_5382del	XP_006717948.1:p.His1793_Thr1794del
XM_006717886.2:c.5377_5382del	XP_006717949.1:p.His1793_Thr1794del
XM_006717888.2:c.5374_5379del	XP_006717951.1:p.His1792_Thr1793del
XM_006717889.2:c.5329_5334del	XP_006717952.1:p.His1777_Thr1778del
XM_006717890.1:c.4453_4458del	XP_006717953.1:p.His1485_Thr1486del
XM_011539849.1:c.5377_5382del	XP_011538151.1:p.His1793_Thr1794del
XM_011539850.1:c.4222_4227del	XP_011538152.1:p.His1408_Thr1409del
XM_006717885.4:c.5377_5382del	XP_006717948.1:p.His1793_Thr1794del
XM_006717888.4:c.5374_5379del	XP_006717951.1:p.His1792_Thr1793del
XM_006717889.4:c.5329_5334del	XP_006717952.1:p.His1777_Thr1778del
XM_006717890.3:c.4453_4458del	XP_006717953.1:p.His1485_Thr1486del
XM_011539849.3:c.5377_5382del	XP_011538151.1:p.His1793_Thr1794del
XM_011539850.3:c.4222_4227del	XP_011538152.1:p.His1408_Thr1409del
XM_017016310.2:c.5377_5382del	XP_016871799.1:p.His1793_Thr1794del
XM_017016311.2:c.5377_5382del	XP_016871800.1:p.His1793_Thr1794del
XM_017016312.2:c.4363_4368del	XP_016871801.1:p.His1455_Thr1456del
NM_001288989.2:c.5287_5292del	NP_001275918.1:p.His1763_Thr1764del
NM_016341.4:c.5335_5340del MANE Select	NP_057425.3:p.His1779_Thr1780del