Canonical Allele Identifier: CA848820039

Gene: PLEC

Linked Data

• dbSNP Id: rs1367735932
• gnomAD v3: 8-143916342-CGAGCCGGTGCGG-C
• gnomAD v4: 8-143916342-CGAGCCGGTGCGG-C
• MyVariant Identifiers: chr8:g.143916343_143916354del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916348_143916359del , CM000670.2:g.143916348_143916359del	GRCh38
NC_000008.10:g.144990516_144990527del , CM000670.1:g.144990516_144990527del	GRCh37
NC_000008.9:g.145062504_145062515del	NCBI36
NG_012492.1:g.65392_65403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13599_13610del	ENSP00000437303.2:p.Arg4534_Ser4537del
ENST00000685198.1:c.13518_13529del	ENSP00000510528.1:p.Arg4507_Ser4510del
ENST00000687971.1:c.13185_13196del	ENSP00000510788.1:p.Arg4396_Ser4399del
ENST00000693060.1:c.13398_13409del	ENSP00000510329.1:p.Arg4467_Ser4470del
ENST00000345136.8:c.13467_13478del MANE Select	ENSP00000344848.3:p.Arg4490_Ser4493del
ENST00000527303.2:c.10167_10178del	ENSP00000433982.2:p.Arg3390_Ser3393del
ENST00000322810.8:c.13878_13889del	ENSP00000323856.4:p.Arg4627_Ser4630del
ENST00000345136.7:c.13467_13478del	ENSP00000344848.3:p.Arg4490_Ser4493del
ENST00000354589.7:c.13467_13478del	ENSP00000346602.3:p.Arg4490_Ser4493del
ENST00000354958.6:c.13401_13412del	ENSP00000347044.2:p.Arg4468_Ser4471del
ENST00000356346.7:c.13425_13436del MANE Plus Clinical	ENSP00000348702.3:p.Arg4476_Ser4479del
ENST00000357649.6:c.13479_13490del	ENSP00000350277.2:p.Arg4494_Ser4497del
ENST00000398774.6:c.13371_13382del	ENSP00000381756.2:p.Arg4458_Ser4461del
ENST00000436759.6:c.13548_13559del	ENSP00000388180.2:p.Arg4517_Ser4520del
ENST00000527096.5:c.13536_13547del	ENSP00000434583.1:p.Arg4513_Ser4516del
NM_000445.4:c.13548_13559del	NP_000436.2:p.Arg4517_Ser4520del
NM_201378.3:c.13425_13436del	NP_958780.1:p.Arg4476_Ser4479del
NM_201379.2:c.13401_13412del	NP_958781.1:p.Arg4468_Ser4471del
NM_201380.3:c.13878_13889del	NP_958782.1:p.Arg4627_Ser4630del
NM_201381.2:c.13371_13382del	NP_958783.1:p.Arg4458_Ser4461del
NM_201382.3:c.13467_13478del	NP_958784.1:p.Arg4490_Ser4493del
NM_201383.2:c.13479_13490del	NP_958785.1:p.Arg4494_Ser4497del
NM_201384.2:c.13467_13478del	NP_958786.1:p.Arg4490_Ser4493del
XM_005250976.2:c.13893_13904del	XP_005251033.1:p.Arg4632_Ser4635del
XM_005250978.2:c.13494_13505del	XP_005251035.1:p.Arg4499_Ser4502del
XM_005250979.3:c.13482_13493del	XP_005251036.1:p.Arg4495_Ser4498del
XM_005250980.3:c.13482_13493del	XP_005251037.1:p.Arg4495_Ser4498del
XM_005250981.2:c.13440_13451del	XP_005251038.1:p.Arg4481_Ser4484del
XM_005250982.2:c.13416_13427del	XP_005251039.1:p.Arg4473_Ser4476del
XM_005250983.2:c.13398_13409del	XP_005251040.1:p.Arg4467_Ser4470del
XM_005250984.3:c.13386_13397del	XP_005251041.1:p.Arg4463_Ser4466del
XM_006716588.2:c.13563_13574del	XP_006716651.1:p.Arg4522_Ser4525del
XM_006716589.2:c.13413_13424del	XP_006716652.1:p.Arg4472_Ser4475del
XM_006716590.2:c.13413_13424del	XP_006716653.1:p.Arg4472_Ser4475del
XM_011517130.1:c.13482_13493del	XP_011515432.1:p.Arg4495_Ser4498del
XM_011517131.1:c.13398_13409del	XP_011515433.1:p.Arg4467_Ser4470del
XM_011517132.1:c.10113_10124del	XP_011515434.1:p.Arg3372_Ser3375del
XM_005250976.4:c.13893_13904del	XP_005251033.1:p.Arg4632_Ser4635del
XM_005250978.3:c.13494_13505del	XP_005251035.1:p.Arg4499_Ser4502del
XM_005250979.4:c.13482_13493del	XP_005251036.1:p.Arg4495_Ser4498del
XM_005250980.4:c.13482_13493del	XP_005251037.1:p.Arg4495_Ser4498del
XM_005250981.3:c.13440_13451del	XP_005251038.1:p.Arg4481_Ser4484del
XM_005250982.4:c.13416_13427del	XP_005251039.1:p.Arg4473_Ser4476del
XM_005250984.5:c.13386_13397del	XP_005251041.1:p.Arg4463_Ser4466del
XM_006716588.3:c.13563_13574del	XP_006716651.1:p.Arg4522_Ser4525del
XM_006716590.3:c.13413_13424del	XP_006716653.1:p.Arg4472_Ser4475del
XM_011517130.2:c.13482_13493del	XP_011515432.1:p.Arg4495_Ser4498del
XM_011517131.2:c.13398_13409del	XP_011515433.1:p.Arg4467_Ser4470del
XM_011517132.2:c.10113_10124del	XP_011515434.1:p.Arg3372_Ser3375del
NM_000445.5:c.13548_13559del	NP_000436.2:p.Arg4517_Ser4520del
NM_201378.4:c.13425_13436del MANE Plus Clinical	NP_958780.1:p.Arg4476_Ser4479del
NM_201379.3:c.13401_13412del	NP_958781.1:p.Arg4468_Ser4471del
NM_201380.4:c.13878_13889del	NP_958782.1:p.Arg4627_Ser4630del
NM_201381.3:c.13371_13382del	NP_958783.1:p.Arg4458_Ser4461del
NM_201382.4:c.13467_13478del	NP_958784.1:p.Arg4490_Ser4493del
NM_201383.3:c.13479_13490del	NP_958785.1:p.Arg4494_Ser4497del
NM_201384.3:c.13467_13478del MANE Select	NP_958786.1:p.Arg4490_Ser4493del