Canonical Allele Identifier: CA1929006083
Gene: PLCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2053363086

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94310777_94310778del , CM000672.2:g.94310777_94310778del GRCh38
NC_000010.10:g.96070534_96070535del , CM000672.1:g.96070534_96070535del GRCh37
NC_000010.9:g.96060524_96060525del NCBI36
NG_015799.1:g.321789_321790del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371375.2:c.5079+2078_5079+2079del ENSP00000360426.1:n.5079+2078_5079+2079del
ENST00000685132.1:n.1136_1137del
ENST00000685253.1:c.*2546+2078_*2546+2079del ENSP00000509405.1:n.*2546+2078_*2546+2079del
ENST00000685889.1:n.2738+2078_2738+2079del
ENST00000686807.1:n.1422+2078_1422+2079del
ENST00000686954.1:c.*1287+2078_*1287+2079del ENSP00000508416.1:n.*1287+2078_*1287+2079del
ENST00000688810.1:c.5031+2078_5031+2079del ENSP00000509140.1:n.5031+2078_5031+2079del
ENST00000689233.1:n.10211+2078_10211+2079del
ENST00000690340.1:n.3676+2078_3676+2079del
ENST00000692286.1:c.5871+2078_5871+2079del ENSP00000509490.1:n.5871+2078_5871+2079del
ENST00000692396.1:c.5955+2078_5955+2079del ENSP00000508605.1:n.5955+2078_5955+2079del
ENST00000371380.8:c.6003+2078_6003+2079del MANE Select ENSP00000360431.2:n.6003+2078_6003+2079del
ENST00000371385.8:c.4977+2078_4977+2079del ENSP00000360438.4:n.4977+2078_4977+2079del
ENST00000674738.1:c.4558+2078_4558+2079del
ENST00000674827.1:c.4119+2078_4119+2079del ENSP00000502523.1:n.4119+2078_4119+2079del
ENST00000675218.1:c.5079+2078_5079+2079del ENSP00000501910.1:n.5079+2078_5079+2079del
ENST00000675487.1:c.*1936+2078_*1936+2079del ENSP00000502340.1:n.*1936+2078_*1936+2079del
ENST00000675718.1:c.5272+2078_5272+2079del
ENST00000260766.7:c.6003+2078_6003+2079del ENSP00000260766.3:n.6003+2078_6003+2079del
ENST00000371375.1:c.5079+2078_5079+2079del ENSP00000360426.1:n.5079+2078_5079+2079del
ENST00000371380.7:c.6003+2078_6003+2079del ENSP00000360431.2:n.6003+2078_6003+2079del
ENST00000371385.7:c.5079+2078_5079+2079del ENSP00000360438.3:n.5079+2078_5079+2079del
NM_001165979.2:c.5079+2078_5079+2079del NP_001159451.1:n.5079+2078_5079+2079del
NM_001288989.1:c.5955+2078_5955+2079del NP_001275918.1:n.5955+2078_5955+2079del
NM_016341.3:c.6003+2078_6003+2079del NP_057425.3:n.6003+2078_6003+2079del
XM_006717885.2:c.6045+2078_6045+2079del XP_006717948.1:n.6045+2078_6045+2079del
XM_006717886.2:c.6045+2078_6045+2079del XP_006717949.1:n.6045+2078_6045+2079del
XM_006717888.2:c.6042+2078_6042+2079del XP_006717951.1:n.6042+2078_6042+2079del
XM_006717889.2:c.5997+2078_5997+2079del XP_006717952.1:n.5997+2078_5997+2079del
XM_006717890.1:c.5121+2078_5121+2079del XP_006717953.1:n.5121+2078_5121+2079del
XM_011539849.1:c.6045+2078_6045+2079del XP_011538151.1:n.6045+2078_6045+2079del
XM_011539850.1:c.4890+2078_4890+2079del XP_011538152.1:n.4890+2078_4890+2079del
XM_006717885.4:c.6045+2078_6045+2079del XP_006717948.1:n.6045+2078_6045+2079del
XM_006717888.4:c.6042+2078_6042+2079del XP_006717951.1:n.6042+2078_6042+2079del
XM_006717889.4:c.5997+2078_5997+2079del XP_006717952.1:n.5997+2078_5997+2079del
XM_006717890.3:c.5121+2078_5121+2079del XP_006717953.1:n.5121+2078_5121+2079del
XM_011539849.3:c.6045+2078_6045+2079del XP_011538151.1:n.6045+2078_6045+2079del
XM_011539850.3:c.4890+2078_4890+2079del XP_011538152.1:n.4890+2078_4890+2079del
XM_017016310.2:c.6045+2078_6045+2079del XP_016871799.1:n.6045+2078_6045+2079del
XM_017016311.2:c.6045+2078_6045+2079del XP_016871800.1:n.6045+2078_6045+2079del
XM_017016312.2:c.5031+2078_5031+2079del XP_016871801.1:n.5031+2078_5031+2079del
NM_001288989.2:c.5955+2078_5955+2079del NP_001275918.1:n.5955+2078_5955+2079del
NM_016341.4:c.6003+2078_6003+2079del MANE Select NP_057425.3:n.6003+2078_6003+2079del