Canonical Allele Identifier: CA187606131

Gene: PLEC

Linked Data

• dbSNP Id: rs35144369
• MyVariant Identifiers: chr8:g.144990608_144990609insC (hg19) ; chr8:g.143916440_143916441insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916444dup , CM000670.2:g.143916444dup	GRCh38
NC_000008.10:g.144990612dup , CM000670.1:g.144990612dup	GRCh37
NC_000008.9:g.145062600dup	NCBI36
NG_012492.1:g.65305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13512dup	ENSP00000437303.2:p.Leu4505AlafsTer?
ENST00000685198.1:c.13431dup	ENSP00000510528.1:p.Leu4478AlafsTer?
ENST00000687971.1:c.13098dup	ENSP00000510788.1:p.Leu4367AlafsTer?
ENST00000693060.1:c.13311dup	ENSP00000510329.1:p.Leu4438AlafsTer?
ENST00000345136.8:c.13380dup MANE Select	ENSP00000344848.3:p.Leu4461AlafsTer?
ENST00000527303.2:c.10080dup	ENSP00000433982.2:p.Leu3361AlafsTer?
ENST00000322810.8:c.13791dup	ENSP00000323856.4:p.Leu4598AlafsTer?
ENST00000345136.7:c.13380dup	ENSP00000344848.3:p.Leu4461AlafsTer?
ENST00000354589.7:c.13380dup	ENSP00000346602.3:p.Leu4461AlafsTer?
ENST00000354958.6:c.13314dup	ENSP00000347044.2:p.Leu4439AlafsTer?
ENST00000356346.7:c.13338dup MANE Plus Clinical	ENSP00000348702.3:p.Leu4447AlafsTer?
ENST00000357649.6:c.13392dup	ENSP00000350277.2:p.Leu4465AlafsTer?
ENST00000398774.6:c.13284dup	ENSP00000381756.2:p.Leu4429AlafsTer?
ENST00000436759.6:c.13461dup	ENSP00000388180.2:p.Leu4488AlafsTer?
ENST00000527096.5:c.13449dup	ENSP00000434583.1:p.Leu4484AlafsTer?
NM_000445.4:c.13461dup	NP_000436.2:p.Leu4488AlafsTer?
NM_201378.3:c.13338dup	NP_958780.1:p.Leu4447AlafsTer?
NM_201379.2:c.13314dup	NP_958781.1:p.Leu4439AlafsTer?
NM_201380.3:c.13791dup	NP_958782.1:p.Leu4598AlafsTer?
NM_201381.2:c.13284dup	NP_958783.1:p.Leu4429AlafsTer?
NM_201382.3:c.13380dup	NP_958784.1:p.Leu4461AlafsTer?
NM_201383.2:c.13392dup	NP_958785.1:p.Leu4465AlafsTer?
NM_201384.2:c.13380dup	NP_958786.1:p.Leu4461AlafsTer?
XM_005250976.2:c.13806dup	XP_005251033.1:p.Leu4603AlafsTer?
XM_005250978.2:c.13407dup	XP_005251035.1:p.Leu4470AlafsTer?
XM_005250979.3:c.13395dup	XP_005251036.1:p.Leu4466AlafsTer?
XM_005250980.3:c.13395dup	XP_005251037.1:p.Leu4466AlafsTer?
XM_005250981.2:c.13353dup	XP_005251038.1:p.Leu4452AlafsTer?
XM_005250982.2:c.13329dup	XP_005251039.1:p.Leu4444AlafsTer?
XM_005250983.2:c.13311dup	XP_005251040.1:p.Leu4438AlafsTer?
XM_005250984.3:c.13299dup	XP_005251041.1:p.Leu4434AlafsTer?
XM_006716588.2:c.13476dup	XP_006716651.1:p.Leu4493AlafsTer?
XM_006716589.2:c.13326dup	XP_006716652.1:p.Leu4443AlafsTer?
XM_006716590.2:c.13326dup	XP_006716653.1:p.Leu4443AlafsTer?
XM_011517130.1:c.13395dup	XP_011515432.1:p.Leu4466AlafsTer?
XM_011517131.1:c.13311dup	XP_011515433.1:p.Leu4438AlafsTer?
XM_011517132.1:c.10026dup	XP_011515434.1:p.Leu3343AlafsTer?
XM_005250976.4:c.13806dup	XP_005251033.1:p.Leu4603AlafsTer?
XM_005250978.3:c.13407dup	XP_005251035.1:p.Leu4470AlafsTer?
XM_005250979.4:c.13395dup	XP_005251036.1:p.Leu4466AlafsTer?
XM_005250980.4:c.13395dup	XP_005251037.1:p.Leu4466AlafsTer?
XM_005250981.3:c.13353dup	XP_005251038.1:p.Leu4452AlafsTer?
XM_005250982.4:c.13329dup	XP_005251039.1:p.Leu4444AlafsTer?
XM_005250984.5:c.13299dup	XP_005251041.1:p.Leu4434AlafsTer?
XM_006716588.3:c.13476dup	XP_006716651.1:p.Leu4493AlafsTer?
XM_006716590.3:c.13326dup	XP_006716653.1:p.Leu4443AlafsTer?
XM_011517130.2:c.13395dup	XP_011515432.1:p.Leu4466AlafsTer?
XM_011517131.2:c.13311dup	XP_011515433.1:p.Leu4438AlafsTer?
XM_011517132.2:c.10026dup	XP_011515434.1:p.Leu3343AlafsTer?
NM_000445.5:c.13461dup	NP_000436.2:p.Leu4488AlafsTer?
NM_201378.4:c.13338dup MANE Plus Clinical	NP_958780.1:p.Leu4447AlafsTer?
NM_201379.3:c.13314dup	NP_958781.1:p.Leu4439AlafsTer?
NM_201380.4:c.13791dup	NP_958782.1:p.Leu4598AlafsTer?
NM_201381.3:c.13284dup	NP_958783.1:p.Leu4429AlafsTer?
NM_201382.4:c.13380dup	NP_958784.1:p.Leu4461AlafsTer?
NM_201383.3:c.13392dup	NP_958785.1:p.Leu4465AlafsTer?
NM_201384.3:c.13380dup MANE Select	NP_958786.1:p.Leu4461AlafsTer?