Canonical Allele Identifier: CA4923774

Gene: PLEC

Linked Data

• ClinVar Variation Id: 1422739
• ClinVar RCV Id: RCV001926210 ; RCV003134255
• dbSNP Id: rs782675738
• ExAC: 8:144990483 GCGGGAGCCGGCC / G
• gnomAD v2: 8-144990483-GCGGGAGCCGGCC-G
• gnomAD v3: 8-143916315-GCGGGAGCCGGCC-G
• gnomAD v4: 8-143916315-GCGGGAGCCGGCC-G
• MyVariant Identifiers: chr8:g.144990484_144990495del (hg19) ; chr8:g.143916316_143916327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916326_143916337del , CM000670.2:g.143916326_143916337del	GRCh38
NC_000008.10:g.144990494_144990505del , CM000670.1:g.144990494_144990505del	GRCh37
NC_000008.9:g.145062482_145062493del	NCBI36
NG_012492.1:g.65419_65430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13626_13637del	ENSP00000437303.2:p.Ala4543_Arg4546del
ENST00000685198.1:c.13545_13556del	ENSP00000510528.1:p.Ala4516_Arg4519del
ENST00000687971.1:c.13212_13223del	ENSP00000510788.1:p.Ala4405_Arg4408del
ENST00000693060.1:c.13425_13436del	ENSP00000510329.1:p.Ala4476_Arg4479del
ENST00000345136.8:c.13494_13505del MANE Select	ENSP00000344848.3:p.Ala4499_Arg4502del
ENST00000527303.2:c.10194_10205del	ENSP00000433982.2:p.Ala3399_Arg3402del
ENST00000322810.8:c.13905_13916del	ENSP00000323856.4:p.Ala4636_Arg4639del
ENST00000345136.7:c.13494_13505del	ENSP00000344848.3:p.Ala4499_Arg4502del
ENST00000354589.7:c.13494_13505del	ENSP00000346602.3:p.Ala4499_Arg4502del
ENST00000354958.6:c.13428_13439del	ENSP00000347044.2:p.Ala4477_Arg4480del
ENST00000356346.7:c.13452_13463del MANE Plus Clinical	ENSP00000348702.3:p.Ala4485_Arg4488del
ENST00000357649.6:c.13506_13517del	ENSP00000350277.2:p.Ala4503_Arg4506del
ENST00000398774.6:c.13398_13409del	ENSP00000381756.2:p.Ala4467_Arg4470del
ENST00000436759.6:c.13575_13586del	ENSP00000388180.2:p.Ala4526_Arg4529del
ENST00000527096.5:c.13563_13574del	ENSP00000434583.1:p.Ala4522_Arg4525del
NM_000445.4:c.13575_13586del	NP_000436.2:p.Ala4526_Arg4529del
NM_201378.3:c.13452_13463del	NP_958780.1:p.Ala4485_Arg4488del
NM_201379.2:c.13428_13439del	NP_958781.1:p.Ala4477_Arg4480del
NM_201380.3:c.13905_13916del	NP_958782.1:p.Ala4636_Arg4639del
NM_201381.2:c.13398_13409del	NP_958783.1:p.Ala4467_Arg4470del
NM_201382.3:c.13494_13505del	NP_958784.1:p.Ala4499_Arg4502del
NM_201383.2:c.13506_13517del	NP_958785.1:p.Ala4503_Arg4506del
NM_201384.2:c.13494_13505del	NP_958786.1:p.Ala4499_Arg4502del
XM_005250976.2:c.13920_13931del	XP_005251033.1:p.Ala4641_Arg4644del
XM_005250978.2:c.13521_13532del	XP_005251035.1:p.Ala4508_Arg4511del
XM_005250979.3:c.13509_13520del	XP_005251036.1:p.Ala4504_Arg4507del
XM_005250980.3:c.13509_13520del	XP_005251037.1:p.Ala4504_Arg4507del
XM_005250981.2:c.13467_13478del	XP_005251038.1:p.Ala4490_Arg4493del
XM_005250982.2:c.13443_13454del	XP_005251039.1:p.Ala4482_Arg4485del
XM_005250983.2:c.13425_13436del	XP_005251040.1:p.Ala4476_Arg4479del
XM_005250984.3:c.13413_13424del	XP_005251041.1:p.Ala4472_Arg4475del
XM_006716588.2:c.13590_13601del	XP_006716651.1:p.Ala4531_Arg4534del
XM_006716589.2:c.13440_13451del	XP_006716652.1:p.Ala4481_Arg4484del
XM_006716590.2:c.13440_13451del	XP_006716653.1:p.Ala4481_Arg4484del
XM_011517130.1:c.13509_13520del	XP_011515432.1:p.Ala4504_Arg4507del
XM_011517131.1:c.13425_13436del	XP_011515433.1:p.Ala4476_Arg4479del
XM_011517132.1:c.10140_10151del	XP_011515434.1:p.Ala3381_Arg3384del
XM_005250976.4:c.13920_13931del	XP_005251033.1:p.Ala4641_Arg4644del
XM_005250978.3:c.13521_13532del	XP_005251035.1:p.Ala4508_Arg4511del
XM_005250979.4:c.13509_13520del	XP_005251036.1:p.Ala4504_Arg4507del
XM_005250980.4:c.13509_13520del	XP_005251037.1:p.Ala4504_Arg4507del
XM_005250981.3:c.13467_13478del	XP_005251038.1:p.Ala4490_Arg4493del
XM_005250982.4:c.13443_13454del	XP_005251039.1:p.Ala4482_Arg4485del
XM_005250984.5:c.13413_13424del	XP_005251041.1:p.Ala4472_Arg4475del
XM_006716588.3:c.13590_13601del	XP_006716651.1:p.Ala4531_Arg4534del
XM_006716590.3:c.13440_13451del	XP_006716653.1:p.Ala4481_Arg4484del
XM_011517130.2:c.13509_13520del	XP_011515432.1:p.Ala4504_Arg4507del
XM_011517131.2:c.13425_13436del	XP_011515433.1:p.Ala4476_Arg4479del
XM_011517132.2:c.10140_10151del	XP_011515434.1:p.Ala3381_Arg3384del
NM_000445.5:c.13575_13586del	NP_000436.2:p.Ala4526_Arg4529del
NM_201378.4:c.13452_13463del MANE Plus Clinical	NP_958780.1:p.Ala4485_Arg4488del
NM_201379.3:c.13428_13439del	NP_958781.1:p.Ala4477_Arg4480del
NM_201380.4:c.13905_13916del	NP_958782.1:p.Ala4636_Arg4639del
NM_201381.3:c.13398_13409del	NP_958783.1:p.Ala4467_Arg4470del
NM_201382.4:c.13494_13505del	NP_958784.1:p.Ala4499_Arg4502del
NM_201383.3:c.13506_13517del	NP_958785.1:p.Ala4503_Arg4506del
NM_201384.3:c.13494_13505del MANE Select	NP_958786.1:p.Ala4499_Arg4502del