Canonical Allele Identifier: CA915948720

Gene: PLEC

Linked Data

• ClinVar Variation Id: 647134
• ClinVar RCV Id: RCV000801565
• dbSNP Id: rs1586744441

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916338_143916339delinsCC , CM000670.2:g.143916338_143916339delinsCC	GRCh38
NC_000008.10:g.144990506_144990507delinsCC , CM000670.1:g.144990506_144990507delinsCC	GRCh37
NC_000008.9:g.145062494_145062495delinsCC	NCBI36
NG_012492.1:g.65407_65408delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13614_13615delinsGG	ENSP00000437303.2:p.Thr4539Ala
ENST00000685198.1:c.13533_13534delinsGG	ENSP00000510528.1:p.Thr4512Ala
ENST00000687971.1:c.13200_13201delinsGG	ENSP00000510788.1:p.Thr4401Ala
ENST00000693060.1:c.13413_13414delinsGG	ENSP00000510329.1:p.Thr4472Ala
ENST00000345136.8:c.13482_13483delinsGG MANE Select	ENSP00000344848.3:p.Thr4495Ala
ENST00000527303.2:c.10182_10183delinsGG	ENSP00000433982.2:p.Thr3395Ala
ENST00000322810.8:c.13893_13894delinsGG	ENSP00000323856.4:p.Thr4632Ala
ENST00000345136.7:c.13482_13483delinsGG	ENSP00000344848.3:p.Thr4495Ala
ENST00000354589.7:c.13482_13483delinsGG	ENSP00000346602.3:p.Thr4495Ala
ENST00000354958.6:c.13416_13417delinsGG	ENSP00000347044.2:p.Thr4473Ala
ENST00000356346.7:c.13440_13441delinsGG MANE Plus Clinical	ENSP00000348702.3:p.Thr4481Ala
ENST00000357649.6:c.13494_13495delinsGG	ENSP00000350277.2:p.Thr4499Ala
ENST00000398774.6:c.13386_13387delinsGG	ENSP00000381756.2:p.Thr4463Ala
ENST00000436759.6:c.13563_13564delinsGG	ENSP00000388180.2:p.Thr4522Ala
ENST00000527096.5:c.13551_13552delinsGG	ENSP00000434583.1:p.Thr4518Ala
NM_000445.4:c.13563_13564delinsGG	NP_000436.2:p.Thr4522Ala
NM_201378.3:c.13440_13441delinsGG	NP_958780.1:p.Thr4481Ala
NM_201379.2:c.13416_13417delinsGG	NP_958781.1:p.Thr4473Ala
NM_201380.3:c.13893_13894delinsGG	NP_958782.1:p.Thr4632Ala
NM_201381.2:c.13386_13387delinsGG	NP_958783.1:p.Thr4463Ala
NM_201382.3:c.13482_13483delinsGG	NP_958784.1:p.Thr4495Ala
NM_201383.2:c.13494_13495delinsGG	NP_958785.1:p.Thr4499Ala
NM_201384.2:c.13482_13483delinsGG	NP_958786.1:p.Thr4495Ala
XM_005250976.2:c.13908_13909delinsGG	XP_005251033.1:p.Thr4637Ala
XM_005250978.2:c.13509_13510delinsGG	XP_005251035.1:p.Thr4504Ala
XM_005250979.3:c.13497_13498delinsGG	XP_005251036.1:p.Thr4500Ala
XM_005250980.3:c.13497_13498delinsGG	XP_005251037.1:p.Thr4500Ala
XM_005250981.2:c.13455_13456delinsGG	XP_005251038.1:p.Thr4486Ala
XM_005250982.2:c.13431_13432delinsGG	XP_005251039.1:p.Thr4478Ala
XM_005250983.2:c.13413_13414delinsGG	XP_005251040.1:p.Thr4472Ala
XM_005250984.3:c.13401_13402delinsGG	XP_005251041.1:p.Thr4468Ala
XM_006716588.2:c.13578_13579delinsGG	XP_006716651.1:p.Thr4527Ala
XM_006716589.2:c.13428_13429delinsGG	XP_006716652.1:p.Thr4477Ala
XM_006716590.2:c.13428_13429delinsGG	XP_006716653.1:p.Thr4477Ala
XM_011517130.1:c.13497_13498delinsGG	XP_011515432.1:p.Thr4500Ala
XM_011517131.1:c.13413_13414delinsGG	XP_011515433.1:p.Thr4472Ala
XM_011517132.1:c.10128_10129delinsGG	XP_011515434.1:p.Thr3377Ala
XM_005250976.4:c.13908_13909delinsGG	XP_005251033.1:p.Thr4637Ala
XM_005250978.3:c.13509_13510delinsGG	XP_005251035.1:p.Thr4504Ala
XM_005250979.4:c.13497_13498delinsGG	XP_005251036.1:p.Thr4500Ala
XM_005250980.4:c.13497_13498delinsGG	XP_005251037.1:p.Thr4500Ala
XM_005250981.3:c.13455_13456delinsGG	XP_005251038.1:p.Thr4486Ala
XM_005250982.4:c.13431_13432delinsGG	XP_005251039.1:p.Thr4478Ala
XM_005250984.5:c.13401_13402delinsGG	XP_005251041.1:p.Thr4468Ala
XM_006716588.3:c.13578_13579delinsGG	XP_006716651.1:p.Thr4527Ala
XM_006716590.3:c.13428_13429delinsGG	XP_006716653.1:p.Thr4477Ala
XM_011517130.2:c.13497_13498delinsGG	XP_011515432.1:p.Thr4500Ala
XM_011517131.2:c.13413_13414delinsGG	XP_011515433.1:p.Thr4472Ala
XM_011517132.2:c.10128_10129delinsGG	XP_011515434.1:p.Thr3377Ala
NM_000445.5:c.13563_13564delinsGG	NP_000436.2:p.Thr4522Ala
NM_201378.4:c.13440_13441delinsGG MANE Plus Clinical	NP_958780.1:p.Thr4481Ala
NM_201379.3:c.13416_13417delinsGG	NP_958781.1:p.Thr4473Ala
NM_201380.4:c.13893_13894delinsGG	NP_958782.1:p.Thr4632Ala
NM_201381.3:c.13386_13387delinsGG	NP_958783.1:p.Thr4463Ala
NM_201382.4:c.13482_13483delinsGG	NP_958784.1:p.Thr4495Ala
NM_201383.3:c.13494_13495delinsGG	NP_958785.1:p.Thr4499Ala
NM_201384.3:c.13482_13483delinsGG MANE Select	NP_958786.1:p.Thr4495Ala