Canonical Allele Identifier: CA891862859
Gene: PLCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 591185
ClinVar RCV Id: RCV000722362
dbSNP Id: rs1564873908

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298383del , CM000672.2:g.94298383del GRCh38
NC_000010.10:g.96058140del , CM000672.1:g.96058140del GRCh37
NC_000010.9:g.96048130del NCBI36
NG_015799.1:g.309395del

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:n.4248del ENSP00000360426.1:p.Cys1417ValfsTer?
ENST00000685253.1:c.*1715del ENSP00000509405.1:n.*1715del
ENST00000685889.1:n.1907del
ENST00000686807.1:n.591del
ENST00000686954.1:c.*456del ENSP00000508416.1:n.*456del
ENST00000688810.1:n.4200del ENSP00000509140.1:p.Cys1401ValfsTer?
ENST00000689233.1:n.9380del
ENST00000690340.1:n.2845del
ENST00000692286.1:c.5040del ENSP00000509490.1:p.Cys1681ValfsTer?
ENST00000692396.1:c.5124del ENSP00000508605.1:p.Cys1709ValfsTer?
ENST00000371380.8:c.5172del MANE Select ENSP00000360431.2:p.Cys1725ValfsTer?
ENST00000371385.8:c.4146del ENSP00000360438.4:p.Cys1383ValfsTer?
ENST00000674738.1:n.3727del
ENST00000674827.1:n.3288del ENSP00000502523.1:p.Cys1097ValfsTer?
ENST00000675218.1:n.4248del ENSP00000501910.1:p.Cys1417ValfsTer?
ENST00000675487.1:c.*1105del ENSP00000502340.1:n.*1105del
ENST00000675718.1:n.4441del
ENST00000676102.1:c.4017del ENSP00000502811.1:p.Cys1340ValfsTer?
ENST00000260766.7:c.5172del ENSP00000260766.3:p.Cys1725ValfsTer?
ENST00000371375.1:n.4248del ENSP00000360426.1:p.Cys1417ValfsTer?
ENST00000371380.7:c.5172del ENSP00000360431.2:p.Cys1725ValfsTer?
ENST00000371385.7:c.4248del ENSP00000360438.3:p.Cys1417ValfsTer?
NM_001165979.2:c.4248del NP_001159451.1:p.Cys1417ValfsTer?
NM_001288989.1:c.5124del NP_001275918.1:p.Cys1709ValfsTer?
NM_016341.3:c.5172del NP_057425.3:p.Cys1725ValfsTer?
XM_006717885.2:c.5214del XP_006717948.1:p.Cys1739ValfsTer?
XM_006717886.2:c.5214del XP_006717949.1:p.Cys1739ValfsTer?
XM_006717888.2:c.5211del XP_006717951.1:p.Cys1738ValfsTer?
XM_006717889.2:c.5166del XP_006717952.1:p.Cys1723ValfsTer?
XM_006717890.1:c.4290del XP_006717953.1:p.Cys1431ValfsTer?
XM_011539849.1:c.5214del XP_011538151.1:p.Cys1739ValfsTer?
XM_011539850.1:c.4059del XP_011538152.1:p.Cys1354ValfsTer?
XM_006717885.4:c.5214del XP_006717948.1:p.Cys1739ValfsTer?
XM_006717888.4:c.5211del XP_006717951.1:p.Cys1738ValfsTer?
XM_006717889.4:c.5166del XP_006717952.1:p.Cys1723ValfsTer?
XM_006717890.3:c.4290del XP_006717953.1:p.Cys1431ValfsTer?
XM_011539849.3:c.5214del XP_011538151.1:p.Cys1739ValfsTer?
XM_011539850.3:c.4059del XP_011538152.1:p.Cys1354ValfsTer?
XM_017016310.2:c.5214del XP_016871799.1:p.Cys1739ValfsTer?
XM_017016311.2:c.5214del XP_016871800.1:p.Cys1739ValfsTer?
XM_017016312.2:c.4200del XP_016871801.1:p.Cys1401ValfsTer?
NM_001288989.2:c.5124del NP_001275918.1:p.Cys1709ValfsTer?
NM_016341.4:c.5172del MANE Select NP_057425.3:p.Cys1725ValfsTer?