Canonical Allele Identifier: CA2789048498

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293717_94293720del , CM000672.2:g.94293717_94293720del	GRCh38
NC_000010.10:g.96053474_96053477del , CM000672.1:g.96053474_96053477del	GRCh37
NC_000010.9:g.96043464_96043467del	NCBI36
NG_015799.1:g.304729_304732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4243+78_4243+81del	ENSP00000360426.1:n.4243+78_4243+81del
ENST00000685253.1:c.*1710+78_*1710+81del	ENSP00000509405.1:n.*1710+78_*1710+81del
ENST00000685889.1:n.1902+78_1902+81del
ENST00000686807.1:n.586+78_586+81del
ENST00000686954.1:c.*451+78_*451+81del	ENSP00000508416.1:n.*451+78_*451+81del
ENST00000688810.1:c.4195+78_4195+81del	ENSP00000509140.1:n.4195+78_4195+81del
ENST00000689233.1:n.9375+78_9375+81del
ENST00000690340.1:n.2840+78_2840+81del
ENST00000692286.1:c.5036-4662_5036-4659del	ENSP00000509490.1:n.5036-4662_5036-4659del
ENST00000692396.1:c.5119+78_5119+81del	ENSP00000508605.1:n.5119+78_5119+81del
ENST00000371380.8:c.5167+78_5167+81del MANE Select	ENSP00000360431.2:n.5167+78_5167+81del
ENST00000371385.8:c.4141+78_4141+81del	ENSP00000360438.4:n.4141+78_4141+81del
ENST00000674738.1:c.3722+78_3722+81del
ENST00000674827.1:c.3283+78_3283+81del	ENSP00000502523.1:n.3283+78_3283+81del
ENST00000675218.1:c.4243+78_4243+81del	ENSP00000501910.1:n.4243+78_4243+81del
ENST00000675487.1:c.*1100+78_*1100+81del	ENSP00000502340.1:n.*1100+78_*1100+81del
ENST00000675718.1:c.4436+78_4436+81del
ENST00000676102.1:c.4012+78_4012+81del	ENSP00000502811.1:n.4012+78_4012+81del
ENST00000260766.7:c.5167+78_5167+81del	ENSP00000260766.3:n.5167+78_5167+81del
ENST00000371375.1:c.4243+78_4243+81del	ENSP00000360426.1:n.4243+78_4243+81del
ENST00000371380.7:c.5167+78_5167+81del	ENSP00000360431.2:n.5167+78_5167+81del
ENST00000371385.7:c.4243+78_4243+81del	ENSP00000360438.3:n.4243+78_4243+81del
NM_001165979.2:c.4243+78_4243+81del	NP_001159451.1:n.4243+78_4243+81del
NM_001288989.1:c.5119+78_5119+81del	NP_001275918.1:n.5119+78_5119+81del
NM_016341.3:c.5167+78_5167+81del	NP_057425.3:n.5167+78_5167+81del
XM_006717885.2:c.5209+78_5209+81del	XP_006717948.1:n.5209+78_5209+81del
XM_006717886.2:c.5209+78_5209+81del	XP_006717949.1:n.5209+78_5209+81del
XM_006717888.2:c.5206+78_5206+81del	XP_006717951.1:n.5206+78_5206+81del
XM_006717889.2:c.5161+78_5161+81del	XP_006717952.1:n.5161+78_5161+81del
XM_006717890.1:c.4285+78_4285+81del	XP_006717953.1:n.4285+78_4285+81del
XM_011539849.1:c.5209+78_5209+81del	XP_011538151.1:n.5209+78_5209+81del
XM_011539850.1:c.4054+78_4054+81del	XP_011538152.1:n.4054+78_4054+81del
XM_006717885.4:c.5209+78_5209+81del	XP_006717948.1:n.5209+78_5209+81del
XM_006717888.4:c.5206+78_5206+81del	XP_006717951.1:n.5206+78_5206+81del
XM_006717889.4:c.5161+78_5161+81del	XP_006717952.1:n.5161+78_5161+81del
XM_006717890.3:c.4285+78_4285+81del	XP_006717953.1:n.4285+78_4285+81del
XM_011539849.3:c.5209+78_5209+81del	XP_011538151.1:n.5209+78_5209+81del
XM_011539850.3:c.4054+78_4054+81del	XP_011538152.1:n.4054+78_4054+81del
XM_017016310.2:c.5209+78_5209+81del	XP_016871799.1:n.5209+78_5209+81del
XM_017016311.2:c.5209+78_5209+81del	XP_016871800.1:n.5209+78_5209+81del
XM_017016312.2:c.4195+78_4195+81del	XP_016871801.1:n.4195+78_4195+81del
NM_001288989.2:c.5119+78_5119+81del	NP_001275918.1:n.5119+78_5119+81del
NM_016341.4:c.5167+78_5167+81del MANE Select	NP_057425.3:n.5167+78_5167+81del