Canonical Allele Identifier: CA1928998337
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2052913496

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298330_94298351del , CM000672.2:g.94298330_94298351del GRCh38
NC_000010.10:g.96058087_96058108del , CM000672.1:g.96058087_96058108del GRCh37
NC_000010.9:g.96048077_96048098del NCBI36
NG_015799.1:g.309342_309363del

Transcript Alleles

HGVS Amino-acid change
ENST00000371380.8:c.5168-49_5168-28del MANE Select ENSP00000360431.2:p.=
ENST00000371385.8:c.4142-49_4142-28del ENSP00000360438.4:p.=
ENST00000674738.1:n.3723-49_3723-28del
ENST00000674827.1:n.3284-49_3284-28del ENSP00000502523.1:p.=
ENST00000675218.1:n.4244-49_4244-28del ENSP00000501910.1:p.=
ENST00000675487.1:c.*1101-49_*1101-28del ENSP00000502340.1:p.=
ENST00000675718.1:n.4437-49_4437-28del
ENST00000676102.1:c.4013-49_4013-28del ENSP00000502811.1:p.=
ENST00000260766.7:c.5168-49_5168-28del ENSP00000260766.3:p.=
ENST00000371375.1:n.4244-49_4244-28del ENSP00000360426.1:p.=
ENST00000371380.7:c.5168-49_5168-28del ENSP00000360431.2:p.=
ENST00000371385.7:c.4244-49_4244-28del ENSP00000360438.3:p.=
NM_001165979.2:c.4244-49_4244-28del NP_001159451.1:p.=
NM_001288989.1:c.5120-49_5120-28del NP_001275918.1:p.=
NM_016341.3:c.5168-49_5168-28del NP_057425.3:p.=
XM_006717885.2:c.5210-49_5210-28del XP_006717948.1:p.=
XM_006717886.2:c.5210-49_5210-28del XP_006717949.1:p.=
XM_006717888.2:c.5207-49_5207-28del XP_006717951.1:p.=
XM_006717889.2:c.5162-49_5162-28del XP_006717952.1:p.=
XM_006717890.1:c.4286-49_4286-28del XP_006717953.1:p.=
XM_011539849.1:c.5210-49_5210-28del XP_011538151.1:p.=
XM_011539850.1:c.4055-49_4055-28del XP_011538152.1:p.=
XM_006717885.4:c.5210-49_5210-28del XP_006717948.1:p.=
XM_006717888.4:c.5207-49_5207-28del XP_006717951.1:p.=
XM_006717889.4:c.5162-49_5162-28del XP_006717952.1:p.=
XM_006717890.3:c.4286-49_4286-28del XP_006717953.1:p.=
XM_011539849.3:c.5210-49_5210-28del XP_011538151.1:p.=
XM_011539850.3:c.4055-49_4055-28del XP_011538152.1:p.=
XM_017016310.2:c.5210-49_5210-28del XP_016871799.1:p.=
XM_017016311.2:c.5210-49_5210-28del XP_016871800.1:p.=
XM_017016312.2:c.4196-49_4196-28del XP_016871801.1:p.=
NM_001288989.2:c.5120-49_5120-28del NP_001275918.1:p.=
NM_016341.4:c.5168-49_5168-28del MANE Select NP_057425.3:p.=