Canonical Allele Identifier: CA848819935

Gene: PLEC

Linked Data

• ClinVar Variation Id: 2937335
• ClinVar RCV Id: RCV003791525
• dbSNP Id: rs782675738
• gnomAD v4: 8-143916315-G-GCGGGAGCCGGCC
• MyVariant Identifiers: chr8:g.143916315_143916316insCGGGAGCCGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916326_143916337dup , CM000670.2:g.143916326_143916337dup	GRCh38
NC_000008.10:g.144990494_144990505dup , CM000670.1:g.144990494_144990505dup	GRCh37
NC_000008.9:g.145062482_145062493dup	NCBI36
NG_012492.1:g.65419_65430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13626_13637dup	ENSP00000437303.2:p.Arg4546_Arg4547insAlaGlySerArg
ENST00000685198.1:c.13545_13556dup	ENSP00000510528.1:p.Arg4519_Arg4520insAlaGlySerArg
ENST00000687971.1:c.13212_13223dup	ENSP00000510788.1:p.Arg4408_Arg4409insAlaGlySerArg
ENST00000693060.1:c.13425_13436dup	ENSP00000510329.1:p.Arg4479_Arg4480insAlaGlySerArg
ENST00000345136.8:c.13494_13505dup MANE Select	ENSP00000344848.3:p.Arg4502_Arg4503insAlaGlySerArg
ENST00000527303.2:c.10194_10205dup	ENSP00000433982.2:p.Arg3402_Arg3403insAlaGlySerArg
ENST00000322810.8:c.13905_13916dup	ENSP00000323856.4:p.Arg4639_Arg4640insAlaGlySerArg
ENST00000345136.7:c.13494_13505dup	ENSP00000344848.3:p.Arg4502_Arg4503insAlaGlySerArg
ENST00000354589.7:c.13494_13505dup	ENSP00000346602.3:p.Arg4502_Arg4503insAlaGlySerArg
ENST00000354958.6:c.13428_13439dup	ENSP00000347044.2:p.Arg4480_Arg4481insAlaGlySerArg
ENST00000356346.7:c.13452_13463dup MANE Plus Clinical	ENSP00000348702.3:p.Arg4488_Arg4489insAlaGlySerArg
ENST00000357649.6:c.13506_13517dup	ENSP00000350277.2:p.Arg4506_Arg4507insAlaGlySerArg
ENST00000398774.6:c.13398_13409dup	ENSP00000381756.2:p.Arg4470_Arg4471insAlaGlySerArg
ENST00000436759.6:c.13575_13586dup	ENSP00000388180.2:p.Arg4529_Arg4530insAlaGlySerArg
ENST00000527096.5:c.13563_13574dup	ENSP00000434583.1:p.Arg4525_Arg4526insAlaGlySerArg
NM_000445.4:c.13575_13586dup	NP_000436.2:p.Arg4529_Arg4530insAlaGlySerArg
NM_201378.3:c.13452_13463dup	NP_958780.1:p.Arg4488_Arg4489insAlaGlySerArg
NM_201379.2:c.13428_13439dup	NP_958781.1:p.Arg4480_Arg4481insAlaGlySerArg
NM_201380.3:c.13905_13916dup	NP_958782.1:p.Arg4639_Arg4640insAlaGlySerArg
NM_201381.2:c.13398_13409dup	NP_958783.1:p.Arg4470_Arg4471insAlaGlySerArg
NM_201382.3:c.13494_13505dup	NP_958784.1:p.Arg4502_Arg4503insAlaGlySerArg
NM_201383.2:c.13506_13517dup	NP_958785.1:p.Arg4506_Arg4507insAlaGlySerArg
NM_201384.2:c.13494_13505dup	NP_958786.1:p.Arg4502_Arg4503insAlaGlySerArg
XM_005250976.2:c.13920_13931dup	XP_005251033.1:p.Arg4644_Arg4645insAlaGlySerArg
XM_005250978.2:c.13521_13532dup	XP_005251035.1:p.Arg4511_Arg4512insAlaGlySerArg
XM_005250979.3:c.13509_13520dup	XP_005251036.1:p.Arg4507_Arg4508insAlaGlySerArg
XM_005250980.3:c.13509_13520dup	XP_005251037.1:p.Arg4507_Arg4508insAlaGlySerArg
XM_005250981.2:c.13467_13478dup	XP_005251038.1:p.Arg4493_Arg4494insAlaGlySerArg
XM_005250982.2:c.13443_13454dup	XP_005251039.1:p.Arg4485_Arg4486insAlaGlySerArg
XM_005250983.2:c.13425_13436dup	XP_005251040.1:p.Arg4479_Arg4480insAlaGlySerArg
XM_005250984.3:c.13413_13424dup	XP_005251041.1:p.Arg4475_Arg4476insAlaGlySerArg
XM_006716588.2:c.13590_13601dup	XP_006716651.1:p.Arg4534_Arg4535insAlaGlySerArg
XM_006716589.2:c.13440_13451dup	XP_006716652.1:p.Arg4484_Arg4485insAlaGlySerArg
XM_006716590.2:c.13440_13451dup	XP_006716653.1:p.Arg4484_Arg4485insAlaGlySerArg
XM_011517130.1:c.13509_13520dup	XP_011515432.1:p.Arg4507_Arg4508insAlaGlySerArg
XM_011517131.1:c.13425_13436dup	XP_011515433.1:p.Arg4479_Arg4480insAlaGlySerArg
XM_011517132.1:c.10140_10151dup	XP_011515434.1:p.Arg3384_Arg3385insAlaGlySerArg
XM_005250976.4:c.13920_13931dup	XP_005251033.1:p.Arg4644_Arg4645insAlaGlySerArg
XM_005250978.3:c.13521_13532dup	XP_005251035.1:p.Arg4511_Arg4512insAlaGlySerArg
XM_005250979.4:c.13509_13520dup	XP_005251036.1:p.Arg4507_Arg4508insAlaGlySerArg
XM_005250980.4:c.13509_13520dup	XP_005251037.1:p.Arg4507_Arg4508insAlaGlySerArg
XM_005250981.3:c.13467_13478dup	XP_005251038.1:p.Arg4493_Arg4494insAlaGlySerArg
XM_005250982.4:c.13443_13454dup	XP_005251039.1:p.Arg4485_Arg4486insAlaGlySerArg
XM_005250984.5:c.13413_13424dup	XP_005251041.1:p.Arg4475_Arg4476insAlaGlySerArg
XM_006716588.3:c.13590_13601dup	XP_006716651.1:p.Arg4534_Arg4535insAlaGlySerArg
XM_006716590.3:c.13440_13451dup	XP_006716653.1:p.Arg4484_Arg4485insAlaGlySerArg
XM_011517130.2:c.13509_13520dup	XP_011515432.1:p.Arg4507_Arg4508insAlaGlySerArg
XM_011517131.2:c.13425_13436dup	XP_011515433.1:p.Arg4479_Arg4480insAlaGlySerArg
XM_011517132.2:c.10140_10151dup	XP_011515434.1:p.Arg3384_Arg3385insAlaGlySerArg
NM_000445.5:c.13575_13586dup	NP_000436.2:p.Arg4529_Arg4530insAlaGlySerArg
NM_201378.4:c.13452_13463dup MANE Plus Clinical	NP_958780.1:p.Arg4488_Arg4489insAlaGlySerArg
NM_201379.3:c.13428_13439dup	NP_958781.1:p.Arg4480_Arg4481insAlaGlySerArg
NM_201380.4:c.13905_13916dup	NP_958782.1:p.Arg4639_Arg4640insAlaGlySerArg
NM_201381.3:c.13398_13409dup	NP_958783.1:p.Arg4470_Arg4471insAlaGlySerArg
NM_201382.4:c.13494_13505dup	NP_958784.1:p.Arg4502_Arg4503insAlaGlySerArg
NM_201383.3:c.13506_13517dup	NP_958785.1:p.Arg4506_Arg4507insAlaGlySerArg
NM_201384.3:c.13494_13505dup MANE Select	NP_958786.1:p.Arg4502_Arg4503insAlaGlySerArg