Canonical Allele Identifier: CA2610239543
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293731_94293739del , CM000672.2:g.94293731_94293739del GRCh38
NC_000010.10:g.96053488_96053496del , CM000672.1:g.96053488_96053496del GRCh37
NC_000010.9:g.96043478_96043486del NCBI36
NG_015799.1:g.304743_304751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.4243+92_4243+100del ENSP00000360426.1:n.4243+92_4243+100del
ENST00000685253.1:c.*1710+92_*1710+100del ENSP00000509405.1:n.*1710+92_*1710+100del
ENST00000685889.1:n.1902+92_1902+100del
ENST00000686807.1:n.586+92_586+100del
ENST00000686954.1:c.*451+92_*451+100del ENSP00000508416.1:n.*451+92_*451+100del
ENST00000688810.1:c.4195+92_4195+100del ENSP00000509140.1:n.4195+92_4195+100del
ENST00000689233.1:n.9375+92_9375+100del
ENST00000690340.1:n.2840+92_2840+100del
ENST00000692286.1:c.5036-4648_5036-4640del ENSP00000509490.1:n.5036-4648_5036-4640del
ENST00000692396.1:c.5119+92_5119+100del ENSP00000508605.1:n.5119+92_5119+100del
ENST00000371380.8:c.5167+92_5167+100del MANE Select ENSP00000360431.2:n.5167+92_5167+100del
ENST00000371385.8:c.4141+92_4141+100del ENSP00000360438.4:n.4141+92_4141+100del
ENST00000674738.1:c.3722+92_3722+100del
ENST00000674827.1:c.3283+92_3283+100del ENSP00000502523.1:n.3283+92_3283+100del
ENST00000675218.1:c.4243+92_4243+100del ENSP00000501910.1:n.4243+92_4243+100del
ENST00000675487.1:c.*1100+92_*1100+100del ENSP00000502340.1:n.*1100+92_*1100+100del
ENST00000675718.1:c.4436+92_4436+100del
ENST00000676102.1:c.4012+92_4012+100del ENSP00000502811.1:n.4012+92_4012+100del
ENST00000260766.7:c.5167+92_5167+100del ENSP00000260766.3:n.5167+92_5167+100del
ENST00000371375.1:c.4243+92_4243+100del ENSP00000360426.1:n.4243+92_4243+100del
ENST00000371380.7:c.5167+92_5167+100del ENSP00000360431.2:n.5167+92_5167+100del
ENST00000371385.7:c.4243+92_4243+100del ENSP00000360438.3:n.4243+92_4243+100del
NM_001165979.2:c.4243+92_4243+100del NP_001159451.1:n.4243+92_4243+100del
NM_001288989.1:c.5119+92_5119+100del NP_001275918.1:n.5119+92_5119+100del
NM_016341.3:c.5167+92_5167+100del NP_057425.3:n.5167+92_5167+100del
XM_006717885.2:c.5209+92_5209+100del XP_006717948.1:n.5209+92_5209+100del
XM_006717886.2:c.5209+92_5209+100del XP_006717949.1:n.5209+92_5209+100del
XM_006717888.2:c.5206+92_5206+100del XP_006717951.1:n.5206+92_5206+100del
XM_006717889.2:c.5161+92_5161+100del XP_006717952.1:n.5161+92_5161+100del
XM_006717890.1:c.4285+92_4285+100del XP_006717953.1:n.4285+92_4285+100del
XM_011539849.1:c.5209+92_5209+100del XP_011538151.1:n.5209+92_5209+100del
XM_011539850.1:c.4054+92_4054+100del XP_011538152.1:n.4054+92_4054+100del
XM_006717885.4:c.5209+92_5209+100del XP_006717948.1:n.5209+92_5209+100del
XM_006717888.4:c.5206+92_5206+100del XP_006717951.1:n.5206+92_5206+100del
XM_006717889.4:c.5161+92_5161+100del XP_006717952.1:n.5161+92_5161+100del
XM_006717890.3:c.4285+92_4285+100del XP_006717953.1:n.4285+92_4285+100del
XM_011539849.3:c.5209+92_5209+100del XP_011538151.1:n.5209+92_5209+100del
XM_011539850.3:c.4054+92_4054+100del XP_011538152.1:n.4054+92_4054+100del
XM_017016310.2:c.5209+92_5209+100del XP_016871799.1:n.5209+92_5209+100del
XM_017016311.2:c.5209+92_5209+100del XP_016871800.1:n.5209+92_5209+100del
XM_017016312.2:c.4195+92_4195+100del XP_016871801.1:n.4195+92_4195+100del
NM_001288989.2:c.5119+92_5119+100del NP_001275918.1:n.5119+92_5119+100del
NM_016341.4:c.5167+92_5167+100del MANE Select NP_057425.3:n.5167+92_5167+100del