Canonical Allele Identifier: CA10602983

Gene: PLEC

Linked Data

• ClinVar Variation Id: 280769
• ClinVar RCV Id: RCV000382514
• dbSNP Id: rs886041915
• MyVariant Identifiers: chr8:g.145008177del (hg19) ; chr8:g.143934009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143934011del , CM000670.2:g.143934011del	GRCh38
NC_000008.10:g.145008179del , CM000670.1:g.145008179del	GRCh37
NC_000008.9:g.145080167del	NCBI36
NG_012492.1:g.47737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1384del	ENSP00000437303.2:p.Leu462CysfsTer?
ENST00000685198.1:c.1303del	ENSP00000510528.1:p.Leu435CysfsTer?
ENST00000687971.1:c.970del	ENSP00000510788.1:p.Leu324CysfsTer?
ENST00000693060.1:c.1183del	ENSP00000510329.1:p.Leu395CysfsTer?
ENST00000345136.8:c.1252del MANE Select	ENSP00000344848.3:p.Leu418CysfsTer?
ENST00000527303.2:c.1333del	ENSP00000433982.2:p.Leu445CysfsTer?
ENST00000322810.8:c.1663del	ENSP00000323856.4:p.Leu555CysfsTer?
ENST00000345136.7:c.1252del	ENSP00000344848.3:p.Leu418CysfsTer?
ENST00000354589.7:c.1252del	ENSP00000346602.3:p.Leu418CysfsTer?
ENST00000354958.6:c.1186del	ENSP00000347044.2:p.Leu396CysfsTer?
ENST00000356346.7:c.1210del MANE Plus Clinical	ENSP00000348702.3:p.Leu404CysfsTer?
ENST00000357649.6:c.1264del	ENSP00000350277.2:p.Leu422CysfsTer?
ENST00000398774.6:c.1156del	ENSP00000381756.2:p.Leu386CysfsTer?
ENST00000436759.6:c.1333del	ENSP00000388180.2:p.Leu445CysfsTer?
ENST00000527096.5:c.1321del	ENSP00000434583.1:p.Leu441CysfsTer?
ENST00000528025.5:c.1384del	ENSP00000437303.1:p.Leu462CysfsTer?
NM_000445.4:c.1333del	NP_000436.2:p.Leu445CysfsTer?
NM_201378.3:c.1210del	NP_958780.1:p.Leu404CysfsTer?
NM_201379.2:c.1186del	NP_958781.1:p.Leu396CysfsTer?
NM_201380.3:c.1663del	NP_958782.1:p.Leu555CysfsTer?
NM_201381.2:c.1156del	NP_958783.1:p.Leu386CysfsTer?
NM_201382.3:c.1252del	NP_958784.1:p.Leu418CysfsTer?
NM_201383.2:c.1264del	NP_958785.1:p.Leu422CysfsTer?
NM_201384.2:c.1252del	NP_958786.1:p.Leu418CysfsTer?
XM_005250976.2:c.1678del	XP_005251033.1:p.Leu560CysfsTer?
XM_005250978.2:c.1279del	XP_005251035.1:p.Leu427CysfsTer?
XM_005250979.3:c.1267del	XP_005251036.1:p.Leu423CysfsTer?
XM_005250980.3:c.1267del	XP_005251037.1:p.Leu423CysfsTer?
XM_005250981.2:c.1225del	XP_005251038.1:p.Leu409CysfsTer?
XM_005250982.2:c.1201del	XP_005251039.1:p.Leu401CysfsTer?
XM_005250983.2:c.1183del	XP_005251040.1:p.Leu395CysfsTer?
XM_005250984.3:c.1171del	XP_005251041.1:p.Leu391CysfsTer?
XM_006716588.2:c.1348del	XP_006716651.1:p.Leu450CysfsTer?
XM_006716589.2:c.1198del	XP_006716652.1:p.Leu400CysfsTer?
XM_006716590.2:c.1198del	XP_006716653.1:p.Leu400CysfsTer?
XM_011517130.1:c.1267del	XP_011515432.1:p.Leu423CysfsTer?
XM_011517131.1:c.1183del	XP_011515433.1:p.Leu395CysfsTer?
XM_011517132.1:c.1279del	XP_011515434.1:p.Leu427CysfsTer?
XM_005250976.4:c.1678del	XP_005251033.1:p.Leu560CysfsTer?
XM_005250978.3:c.1279del	XP_005251035.1:p.Leu427CysfsTer?
XM_005250979.4:c.1267del	XP_005251036.1:p.Leu423CysfsTer?
XM_005250980.4:c.1267del	XP_005251037.1:p.Leu423CysfsTer?
XM_005250981.3:c.1225del	XP_005251038.1:p.Leu409CysfsTer?
XM_005250982.4:c.1201del	XP_005251039.1:p.Leu401CysfsTer?
XM_005250984.5:c.1171del	XP_005251041.1:p.Leu391CysfsTer?
XM_006716588.3:c.1348del	XP_006716651.1:p.Leu450CysfsTer?
XM_006716590.3:c.1198del	XP_006716653.1:p.Leu400CysfsTer?
XM_011517130.2:c.1267del	XP_011515432.1:p.Leu423CysfsTer?
XM_011517131.2:c.1183del	XP_011515433.1:p.Leu395CysfsTer?
XM_011517132.2:c.1279del	XP_011515434.1:p.Leu427CysfsTer?
NM_000445.5:c.1333del	NP_000436.2:p.Leu445CysfsTer?
NM_201378.4:c.1210del MANE Plus Clinical	NP_958780.1:p.Leu404CysfsTer?
NM_201379.3:c.1186del	NP_958781.1:p.Leu396CysfsTer?
NM_201380.4:c.1663del	NP_958782.1:p.Leu555CysfsTer?
NM_201381.3:c.1156del	NP_958783.1:p.Leu386CysfsTer?
NM_201382.4:c.1252del	NP_958784.1:p.Leu418CysfsTer?
NM_201383.3:c.1264del	NP_958785.1:p.Leu422CysfsTer?
NM_201384.3:c.1252del MANE Select	NP_958786.1:p.Leu418CysfsTer?