Canonical Allele Identifier: CA1826036961

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916338_143916339delinsTG , CM000670.2:g.143916338_143916339delinsTG	GRCh38
NC_000008.10:g.144990506_144990507delinsTG , CM000670.1:g.144990506_144990507delinsTG	GRCh37
NC_000008.9:g.145062494_145062495delinsTG	NCBI36
NG_012492.1:g.65407_65408delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13614_13615delinsCA	ENSP00000437303.2:p.Arg4538=
ENST00000685198.1:c.13533_13534delinsCA	ENSP00000510528.1:p.Arg4511=
ENST00000687971.1:c.13200_13201delinsCA	ENSP00000510788.1:p.Arg4400=
ENST00000693060.1:c.13413_13414delinsCA	ENSP00000510329.1:p.Arg4471=
ENST00000345136.8:c.13482_13483delinsCA MANE Select	ENSP00000344848.3:p.Arg4494=
ENST00000527303.2:c.10182_10183delinsCA	ENSP00000433982.2:p.Arg3394=
ENST00000322810.8:c.13893_13894delinsCA	ENSP00000323856.4:p.Arg4631=
ENST00000345136.7:c.13482_13483delinsCA	ENSP00000344848.3:p.Arg4494=
ENST00000354589.7:c.13482_13483delinsCA	ENSP00000346602.3:p.Arg4494=
ENST00000354958.6:c.13416_13417delinsCA	ENSP00000347044.2:p.Arg4472=
ENST00000356346.7:c.13440_13441delinsCA MANE Plus Clinical	ENSP00000348702.3:p.Arg4480=
ENST00000357649.6:c.13494_13495delinsCA	ENSP00000350277.2:p.Arg4498=
ENST00000398774.6:c.13386_13387delinsCA	ENSP00000381756.2:p.Arg4462=
ENST00000436759.6:c.13563_13564delinsCA	ENSP00000388180.2:p.Arg4521=
ENST00000527096.5:c.13551_13552delinsCA	ENSP00000434583.1:p.Arg4517=
NM_000445.4:c.13563_13564delinsCA	NP_000436.2:p.Arg4521=
NM_201378.3:c.13440_13441delinsCA	NP_958780.1:p.Arg4480=
NM_201379.2:c.13416_13417delinsCA	NP_958781.1:p.Arg4472=
NM_201380.3:c.13893_13894delinsCA	NP_958782.1:p.Arg4631=
NM_201381.2:c.13386_13387delinsCA	NP_958783.1:p.Arg4462=
NM_201382.3:c.13482_13483delinsCA	NP_958784.1:p.Arg4494=
NM_201383.2:c.13494_13495delinsCA	NP_958785.1:p.Arg4498=
NM_201384.2:c.13482_13483delinsCA	NP_958786.1:p.Arg4494=
XM_005250976.2:c.13908_13909delinsCA	XP_005251033.1:p.Arg4636=
XM_005250978.2:c.13509_13510delinsCA	XP_005251035.1:p.Arg4503=
XM_005250979.3:c.13497_13498delinsCA	XP_005251036.1:p.Arg4499=
XM_005250980.3:c.13497_13498delinsCA	XP_005251037.1:p.Arg4499=
XM_005250981.2:c.13455_13456delinsCA	XP_005251038.1:p.Arg4485=
XM_005250982.2:c.13431_13432delinsCA	XP_005251039.1:p.Arg4477=
XM_005250983.2:c.13413_13414delinsCA	XP_005251040.1:p.Arg4471=
XM_005250984.3:c.13401_13402delinsCA	XP_005251041.1:p.Arg4467=
XM_006716588.2:c.13578_13579delinsCA	XP_006716651.1:p.Arg4526=
XM_006716589.2:c.13428_13429delinsCA	XP_006716652.1:p.Arg4476=
XM_006716590.2:c.13428_13429delinsCA	XP_006716653.1:p.Arg4476=
XM_011517130.1:c.13497_13498delinsCA	XP_011515432.1:p.Arg4499=
XM_011517131.1:c.13413_13414delinsCA	XP_011515433.1:p.Arg4471=
XM_011517132.1:c.10128_10129delinsCA	XP_011515434.1:p.Arg3376=
XM_005250976.4:c.13908_13909delinsCA	XP_005251033.1:p.Arg4636=
XM_005250978.3:c.13509_13510delinsCA	XP_005251035.1:p.Arg4503=
XM_005250979.4:c.13497_13498delinsCA	XP_005251036.1:p.Arg4499=
XM_005250980.4:c.13497_13498delinsCA	XP_005251037.1:p.Arg4499=
XM_005250981.3:c.13455_13456delinsCA	XP_005251038.1:p.Arg4485=
XM_005250982.4:c.13431_13432delinsCA	XP_005251039.1:p.Arg4477=
XM_005250984.5:c.13401_13402delinsCA	XP_005251041.1:p.Arg4467=
XM_006716588.3:c.13578_13579delinsCA	XP_006716651.1:p.Arg4526=
XM_006716590.3:c.13428_13429delinsCA	XP_006716653.1:p.Arg4476=
XM_011517130.2:c.13497_13498delinsCA	XP_011515432.1:p.Arg4499=
XM_011517131.2:c.13413_13414delinsCA	XP_011515433.1:p.Arg4471=
XM_011517132.2:c.10128_10129delinsCA	XP_011515434.1:p.Arg3376=
NM_000445.5:c.13563_13564delinsCA	NP_000436.2:p.Arg4521=
NM_201378.4:c.13440_13441delinsCA MANE Plus Clinical	NP_958780.1:p.Arg4480=
NM_201379.3:c.13416_13417delinsCA	NP_958781.1:p.Arg4472=
NM_201380.4:c.13893_13894delinsCA	NP_958782.1:p.Arg4631=
NM_201381.3:c.13386_13387delinsCA	NP_958783.1:p.Arg4462=
NM_201382.4:c.13482_13483delinsCA	NP_958784.1:p.Arg4494=
NM_201383.3:c.13494_13495delinsCA	NP_958785.1:p.Arg4498=
NM_201384.3:c.13482_13483delinsCA MANE Select	NP_958786.1:p.Arg4494=