Canonical Allele Identifier: CA1928996212
Gene: PLCE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94293641_94293643delinsTAA , CM000672.2:g.94293641_94293643delinsTAA GRCh38
NC_000010.10:g.96053398_96053400delinsTAA , CM000672.1:g.96053398_96053400delinsTAA GRCh37
NC_000010.9:g.96043388_96043390delinsTAA NCBI36
NG_015799.1:g.304653_304655delinsTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.4243+2_4243+4delinsTAA ENSP00000360426.1:n.4243+2_4243+4delinsTA...
ENST00000685253.1:c.*1710+2_*1710+4delinsTAA ENSP00000509405.1:n.*1710+2_*1710+4delins...
ENST00000685889.1:n.1902+2_1902+4delinsTAA
ENST00000686807.1:n.586+2_586+4delinsTAA
ENST00000686954.1:c.*451+2_*451+4delinsTAA ENSP00000508416.1:n.*451+2_*451+4delinsTA...
ENST00000688810.1:c.4195+2_4195+4delinsTAA ENSP00000509140.1:n.4195+2_4195+4delinsTA...
ENST00000689233.1:n.9375+2_9375+4delinsTAA
ENST00000690340.1:n.2840+2_2840+4delinsTAA
ENST00000692286.1:c.5036-4738_5036-4736delinsTAA ENSP00000509490.1:n.5036-4738_5036-4736de...
ENST00000692396.1:c.5119+2_5119+4delinsTAA ENSP00000508605.1:n.5119+2_5119+4delinsTA...
ENST00000371380.8:c.5167+2_5167+4delinsTAA MANE Select ENSP00000360431.2:n.5167+2_5167+4delinsTA...
ENST00000371385.8:c.4141+2_4141+4delinsTAA ENSP00000360438.4:n.4141+2_4141+4delinsTA...
ENST00000674738.1:c.3722+2_3722+4delinsTAA
ENST00000674827.1:c.3283+2_3283+4delinsTAA ENSP00000502523.1:n.3283+2_3283+4delinsTA...
ENST00000675218.1:c.4243+2_4243+4delinsTAA ENSP00000501910.1:n.4243+2_4243+4delinsTA...
ENST00000675487.1:c.*1100+2_*1100+4delinsTAA ENSP00000502340.1:n.*1100+2_*1100+4delins...
ENST00000675718.1:c.4436+2_4436+4delinsTAA
ENST00000676102.1:c.4012+2_4012+4delinsTAA ENSP00000502811.1:n.4012+2_4012+4delinsTA...
ENST00000260766.7:c.5167+2_5167+4delinsTAA ENSP00000260766.3:n.5167+2_5167+4delinsTA...
ENST00000371375.1:c.4243+2_4243+4delinsTAA ENSP00000360426.1:n.4243+2_4243+4delinsTA...
ENST00000371380.7:c.5167+2_5167+4delinsTAA ENSP00000360431.2:n.5167+2_5167+4delinsTA...
ENST00000371385.7:c.4243+2_4243+4delinsTAA ENSP00000360438.3:n.4243+2_4243+4delinsTA...
NM_001165979.2:c.4243+2_4243+4delinsTAA NP_001159451.1:n.4243+2_4243+4delinsTAA
NM_001288989.1:c.5119+2_5119+4delinsTAA NP_001275918.1:n.5119+2_5119+4delinsTAA
NM_016341.3:c.5167+2_5167+4delinsTAA NP_057425.3:n.5167+2_5167+4delinsTAA
XM_006717885.2:c.5209+2_5209+4delinsTAA XP_006717948.1:n.5209+2_5209+4delinsTAA
XM_006717886.2:c.5209+2_5209+4delinsTAA XP_006717949.1:n.5209+2_5209+4delinsTAA
XM_006717888.2:c.5206+2_5206+4delinsTAA XP_006717951.1:n.5206+2_5206+4delinsTAA
XM_006717889.2:c.5161+2_5161+4delinsTAA XP_006717952.1:n.5161+2_5161+4delinsTAA
XM_006717890.1:c.4285+2_4285+4delinsTAA XP_006717953.1:n.4285+2_4285+4delinsTAA
XM_011539849.1:c.5209+2_5209+4delinsTAA XP_011538151.1:n.5209+2_5209+4delinsTAA
XM_011539850.1:c.4054+2_4054+4delinsTAA XP_011538152.1:n.4054+2_4054+4delinsTAA
XM_006717885.4:c.5209+2_5209+4delinsTAA XP_006717948.1:n.5209+2_5209+4delinsTAA
XM_006717888.4:c.5206+2_5206+4delinsTAA XP_006717951.1:n.5206+2_5206+4delinsTAA
XM_006717889.4:c.5161+2_5161+4delinsTAA XP_006717952.1:n.5161+2_5161+4delinsTAA
XM_006717890.3:c.4285+2_4285+4delinsTAA XP_006717953.1:n.4285+2_4285+4delinsTAA
XM_011539849.3:c.5209+2_5209+4delinsTAA XP_011538151.1:n.5209+2_5209+4delinsTAA
XM_011539850.3:c.4054+2_4054+4delinsTAA XP_011538152.1:n.4054+2_4054+4delinsTAA
XM_017016310.2:c.5209+2_5209+4delinsTAA XP_016871799.1:n.5209+2_5209+4delinsTAA
XM_017016311.2:c.5209+2_5209+4delinsTAA XP_016871800.1:n.5209+2_5209+4delinsTAA
XM_017016312.2:c.4195+2_4195+4delinsTAA XP_016871801.1:n.4195+2_4195+4delinsTAA
NM_001288989.2:c.5119+2_5119+4delinsTAA NP_001275918.1:n.5119+2_5119+4delinsTAA
NM_016341.4:c.5167+2_5167+4delinsTAA MANE Select NP_057425.3:n.5167+2_5167+4delinsTAA