Canonical Allele Identifier: CA16621870
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 425452
ClinVar RCV Id: RCV000487728
dbSNP Id: rs1064797350

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143924875del , CM000670.2:g.143924875del GRCh38
NC_000008.10:g.144999043del , CM000670.1:g.144999043del GRCh37
NC_000008.9:g.145071031del NCBI36
NG_012492.1:g.56872del

Transcript Alleles

HGVS Amino-acid change
ENST00000528025.6:c.5187del ENSP00000437303.2:p.Gln1730SerfsTer?
ENST00000685198.1:c.5106del ENSP00000510528.1:p.Gln1703SerfsTer?
ENST00000687971.1:c.4773del ENSP00000510788.1:p.Gln1592SerfsTer?
ENST00000693060.1:c.4986del ENSP00000510329.1:p.Gln1663SerfsTer?
ENST00000345136.8:c.5055del MANE Select ENSP00000344848.3:p.Gln1686SerfsTer?
ENST00000527303.2:c.4125+1910del ENSP00000433982.2:n.4125+1910del
ENST00000322810.8:c.5466del ENSP00000323856.4:p.Gln1823SerfsTer?
ENST00000345136.7:c.5055del ENSP00000344848.3:p.Gln1686SerfsTer?
ENST00000354589.7:c.5055del ENSP00000346602.3:p.Gln1686SerfsTer?
ENST00000354958.6:c.4989del ENSP00000347044.2:p.Gln1664SerfsTer?
ENST00000356346.7:c.5013del MANE Plus Clinical ENSP00000348702.3:p.Gln1672SerfsTer?
ENST00000357649.6:c.5067del ENSP00000350277.2:p.Gln1690SerfsTer?
ENST00000398774.6:c.4959del ENSP00000381756.2:p.Gln1654SerfsTer?
ENST00000436759.6:c.5136del ENSP00000388180.2:p.Gln1713SerfsTer?
ENST00000527096.5:c.5124del ENSP00000434583.1:p.Gln1709SerfsTer?
ENST00000527303.1:c.134+1910del
NM_000445.4:c.5136del NP_000436.2:p.Gln1713SerfsTer?
NM_201378.3:c.5013del NP_958780.1:p.Gln1672SerfsTer?
NM_201379.2:c.4989del NP_958781.1:p.Gln1664SerfsTer?
NM_201380.3:c.5466del NP_958782.1:p.Gln1823SerfsTer?
NM_201381.2:c.4959del NP_958783.1:p.Gln1654SerfsTer?
NM_201382.3:c.5055del NP_958784.1:p.Gln1686SerfsTer?
NM_201383.2:c.5067del NP_958785.1:p.Gln1690SerfsTer?
NM_201384.2:c.5055del NP_958786.1:p.Gln1686SerfsTer?
XM_005250976.2:c.5481del XP_005251033.1:p.Gln1828SerfsTer?
XM_005250978.2:c.5082del XP_005251035.1:p.Gln1695SerfsTer?
XM_005250979.3:c.5070del XP_005251036.1:p.Gln1691SerfsTer?
XM_005250980.3:c.5070del XP_005251037.1:p.Gln1691SerfsTer?
XM_005250981.2:c.5028del XP_005251038.1:p.Gln1677SerfsTer?
XM_005250982.2:c.5004del XP_005251039.1:p.Gln1669SerfsTer?
XM_005250983.2:c.4986del XP_005251040.1:p.Gln1663SerfsTer?
XM_005250984.3:c.4974del XP_005251041.1:p.Gln1659SerfsTer?
XM_006716588.2:c.5151del XP_006716651.1:p.Gln1718SerfsTer?
XM_006716589.2:c.5001del XP_006716652.1:p.Gln1668SerfsTer?
XM_006716590.2:c.5001del XP_006716653.1:p.Gln1668SerfsTer?
XM_011517130.1:c.5070del XP_011515432.1:p.Gln1691SerfsTer?
XM_011517131.1:c.4986del XP_011515433.1:p.Gln1663SerfsTer?
XM_011517132.1:c.4071+1910del XP_011515434.1:n.4071+1910del
XM_005250976.4:c.5481del XP_005251033.1:p.Gln1828SerfsTer?
XM_005250978.3:c.5082del XP_005251035.1:p.Gln1695SerfsTer?
XM_005250979.4:c.5070del XP_005251036.1:p.Gln1691SerfsTer?
XM_005250980.4:c.5070del XP_005251037.1:p.Gln1691SerfsTer?
XM_005250981.3:c.5028del XP_005251038.1:p.Gln1677SerfsTer?
XM_005250982.4:c.5004del XP_005251039.1:p.Gln1669SerfsTer?
XM_005250984.5:c.4974del XP_005251041.1:p.Gln1659SerfsTer?
XM_006716588.3:c.5151del XP_006716651.1:p.Gln1718SerfsTer?
XM_006716590.3:c.5001del XP_006716653.1:p.Gln1668SerfsTer?
XM_011517130.2:c.5070del XP_011515432.1:p.Gln1691SerfsTer?
XM_011517131.2:c.4986del XP_011515433.1:p.Gln1663SerfsTer?
XM_011517132.2:c.4071+1910del XP_011515434.1:n.4071+1910del
NM_000445.5:c.5136del NP_000436.2:p.Gln1713SerfsTer?
NM_201378.4:c.5013del MANE Plus Clinical NP_958780.1:p.Gln1672SerfsTer?
NM_201379.3:c.4989del NP_958781.1:p.Gln1664SerfsTer?
NM_201380.4:c.5466del NP_958782.1:p.Gln1823SerfsTer?
NM_201381.3:c.4959del NP_958783.1:p.Gln1654SerfsTer?
NM_201382.4:c.5055del NP_958784.1:p.Gln1686SerfsTer?
NM_201383.3:c.5067del NP_958785.1:p.Gln1690SerfsTer?
NM_201384.3:c.5055del MANE Select NP_958786.1:p.Gln1686SerfsTer?