Canonical Allele Identifier: CA4923782

Gene: PLEC

Linked Data

• ClinVar Variation Id: 941519
• ClinVar RCV Id: RCV001211313
• dbSNP Id: rs782472576
• ExAC: 8:144990498 GGAGCCGGTGCGC / G
• gnomAD v2: 8-144990498-GGAGCCGGTGCGC-G
• gnomAD v3: 8-143916330-GGAGCCGGTGCGC-G
• gnomAD v4: 8-143916330-GGAGCCGGTGCGC-G
• MyVariant Identifiers: chr8:g.144990499_144990510del (hg19) ; chr8:g.143916331_143916342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916342_143916353del , CM000670.2:g.143916342_143916353del	GRCh38
NC_000008.10:g.144990510_144990521del , CM000670.1:g.144990510_144990521del	GRCh37
NC_000008.9:g.145062498_145062509del	NCBI36
NG_012492.1:g.65404_65415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13611_13622del	ENSP00000437303.2:p.Arg4538_Ser4541del
ENST00000685198.1:c.13530_13541del	ENSP00000510528.1:p.Arg4511_Ser4514del
ENST00000687971.1:c.13197_13208del	ENSP00000510788.1:p.Arg4400_Ser4403del
ENST00000693060.1:c.13410_13421del	ENSP00000510329.1:p.Arg4471_Ser4474del
ENST00000345136.8:c.13479_13490del MANE Select	ENSP00000344848.3:p.Arg4494_Ser4497del
ENST00000527303.2:c.10179_10190del	ENSP00000433982.2:p.Arg3394_Ser3397del
ENST00000322810.8:c.13890_13901del	ENSP00000323856.4:p.Arg4631_Ser4634del
ENST00000345136.7:c.13479_13490del	ENSP00000344848.3:p.Arg4494_Ser4497del
ENST00000354589.7:c.13479_13490del	ENSP00000346602.3:p.Arg4494_Ser4497del
ENST00000354958.6:c.13413_13424del	ENSP00000347044.2:p.Arg4472_Ser4475del
ENST00000356346.7:c.13437_13448del MANE Plus Clinical	ENSP00000348702.3:p.Arg4480_Ser4483del
ENST00000357649.6:c.13491_13502del	ENSP00000350277.2:p.Arg4498_Ser4501del
ENST00000398774.6:c.13383_13394del	ENSP00000381756.2:p.Arg4462_Ser4465del
ENST00000436759.6:c.13560_13571del	ENSP00000388180.2:p.Arg4521_Ser4524del
ENST00000527096.5:c.13548_13559del	ENSP00000434583.1:p.Arg4517_Ser4520del
NM_000445.4:c.13560_13571del	NP_000436.2:p.Arg4521_Ser4524del
NM_201378.3:c.13437_13448del	NP_958780.1:p.Arg4480_Ser4483del
NM_201379.2:c.13413_13424del	NP_958781.1:p.Arg4472_Ser4475del
NM_201380.3:c.13890_13901del	NP_958782.1:p.Arg4631_Ser4634del
NM_201381.2:c.13383_13394del	NP_958783.1:p.Arg4462_Ser4465del
NM_201382.3:c.13479_13490del	NP_958784.1:p.Arg4494_Ser4497del
NM_201383.2:c.13491_13502del	NP_958785.1:p.Arg4498_Ser4501del
NM_201384.2:c.13479_13490del	NP_958786.1:p.Arg4494_Ser4497del
XM_005250976.2:c.13905_13916del	XP_005251033.1:p.Arg4636_Ser4639del
XM_005250978.2:c.13506_13517del	XP_005251035.1:p.Arg4503_Ser4506del
XM_005250979.3:c.13494_13505del	XP_005251036.1:p.Arg4499_Ser4502del
XM_005250980.3:c.13494_13505del	XP_005251037.1:p.Arg4499_Ser4502del
XM_005250981.2:c.13452_13463del	XP_005251038.1:p.Arg4485_Ser4488del
XM_005250982.2:c.13428_13439del	XP_005251039.1:p.Arg4477_Ser4480del
XM_005250983.2:c.13410_13421del	XP_005251040.1:p.Arg4471_Ser4474del
XM_005250984.3:c.13398_13409del	XP_005251041.1:p.Arg4467_Ser4470del
XM_006716588.2:c.13575_13586del	XP_006716651.1:p.Arg4526_Ser4529del
XM_006716589.2:c.13425_13436del	XP_006716652.1:p.Arg4476_Ser4479del
XM_006716590.2:c.13425_13436del	XP_006716653.1:p.Arg4476_Ser4479del
XM_011517130.1:c.13494_13505del	XP_011515432.1:p.Arg4499_Ser4502del
XM_011517131.1:c.13410_13421del	XP_011515433.1:p.Arg4471_Ser4474del
XM_011517132.1:c.10125_10136del	XP_011515434.1:p.Arg3376_Ser3379del
XM_005250976.4:c.13905_13916del	XP_005251033.1:p.Arg4636_Ser4639del
XM_005250978.3:c.13506_13517del	XP_005251035.1:p.Arg4503_Ser4506del
XM_005250979.4:c.13494_13505del	XP_005251036.1:p.Arg4499_Ser4502del
XM_005250980.4:c.13494_13505del	XP_005251037.1:p.Arg4499_Ser4502del
XM_005250981.3:c.13452_13463del	XP_005251038.1:p.Arg4485_Ser4488del
XM_005250982.4:c.13428_13439del	XP_005251039.1:p.Arg4477_Ser4480del
XM_005250984.5:c.13398_13409del	XP_005251041.1:p.Arg4467_Ser4470del
XM_006716588.3:c.13575_13586del	XP_006716651.1:p.Arg4526_Ser4529del
XM_006716590.3:c.13425_13436del	XP_006716653.1:p.Arg4476_Ser4479del
XM_011517130.2:c.13494_13505del	XP_011515432.1:p.Arg4499_Ser4502del
XM_011517131.2:c.13410_13421del	XP_011515433.1:p.Arg4471_Ser4474del
XM_011517132.2:c.10125_10136del	XP_011515434.1:p.Arg3376_Ser3379del
NM_000445.5:c.13560_13571del	NP_000436.2:p.Arg4521_Ser4524del
NM_201378.4:c.13437_13448del MANE Plus Clinical	NP_958780.1:p.Arg4480_Ser4483del
NM_201379.3:c.13413_13424del	NP_958781.1:p.Arg4472_Ser4475del
NM_201380.4:c.13890_13901del	NP_958782.1:p.Arg4631_Ser4634del
NM_201381.3:c.13383_13394del	NP_958783.1:p.Arg4462_Ser4465del
NM_201382.4:c.13479_13490del	NP_958784.1:p.Arg4494_Ser4497del
NM_201383.3:c.13491_13502del	NP_958785.1:p.Arg4498_Ser4501del
NM_201384.3:c.13479_13490del MANE Select	NP_958786.1:p.Arg4494_Ser4497del