Canonical Allele Identifier: CA1826036919

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916327_143916351delinsCCGGGAGCCGGTGCGCGAGCCGGTG , CM000670.2:g.143916327_143916351delinsCCGGGAGCCGGTGCGCGAGCCGGTG	GRCh38
NC_000008.10:g.144990495_144990519delinsCCGGGAGCCGGTGCGCGAGCCGGTG , CM000670.1:g.144990495_144990519delinsCCGGGAGCCGGTGCGCGAGCCGGTG	GRCh37
NC_000008.9:g.145062483_145062507delinsCCGGGAGCCGGTGCGCGAGCCGGTG	NCBI36
NG_012492.1:g.65395_65419delinsCACCGGCTCGCGCACCGGCTCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13602_13626delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000437303.2:p.Arg4534=
ENST00000685198.1:c.13521_13545delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000510528.1:p.Arg4507=
ENST00000687971.1:c.13188_13212delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000510788.1:p.Arg4396=
ENST00000693060.1:c.13401_13425delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000510329.1:p.Arg4467=
ENST00000345136.8:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG MANE Select	ENSP00000344848.3:p.Arg4490=
ENST00000527303.2:c.10170_10194delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000433982.2:p.Arg3390=
ENST00000322810.8:c.13881_13905delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000323856.4:p.Arg4627=
ENST00000345136.7:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000344848.3:p.Arg4490=
ENST00000354589.7:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000346602.3:p.Arg4490=
ENST00000354958.6:c.13404_13428delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000347044.2:p.Arg4468=
ENST00000356346.7:c.13428_13452delinsCACCGGCTCGCGCACCGGCTCCCGG MANE Plus Clinical	ENSP00000348702.3:p.Arg4476=
ENST00000357649.6:c.13482_13506delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000350277.2:p.Arg4494=
ENST00000398774.6:c.13374_13398delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000381756.2:p.Arg4458=
ENST00000436759.6:c.13551_13575delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000388180.2:p.Arg4517=
ENST00000527096.5:c.13539_13563delinsCACCGGCTCGCGCACCGGCTCCCGG	ENSP00000434583.1:p.Arg4513=
NM_000445.4:c.13551_13575delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_000436.2:p.Arg4517=
NM_201378.3:c.13428_13452delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958780.1:p.Arg4476=
NM_201379.2:c.13404_13428delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958781.1:p.Arg4468=
NM_201380.3:c.13881_13905delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958782.1:p.Arg4627=
NM_201381.2:c.13374_13398delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958783.1:p.Arg4458=
NM_201382.3:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958784.1:p.Arg4490=
NM_201383.2:c.13482_13506delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958785.1:p.Arg4494=
NM_201384.2:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958786.1:p.Arg4490=
XM_005250976.2:c.13896_13920delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251033.1:p.Arg4632=
XM_005250978.2:c.13497_13521delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251035.1:p.Arg4499=
XM_005250979.3:c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251036.1:p.Arg4495=
XM_005250980.3:c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251037.1:p.Arg4495=
XM_005250981.2:c.13443_13467delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251038.1:p.Arg4481=
XM_005250982.2:c.13419_13443delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251039.1:p.Arg4473=
XM_005250983.2:c.13401_13425delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251040.1:p.Arg4467=
XM_005250984.3:c.13389_13413delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251041.1:p.Arg4463=
XM_006716588.2:c.13566_13590delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_006716651.1:p.Arg4522=
XM_006716589.2:c.13416_13440delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_006716652.1:p.Arg4472=
XM_006716590.2:c.13416_13440delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_006716653.1:p.Arg4472=
XM_011517130.1:c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_011515432.1:p.Arg4495=
XM_011517131.1:c.13401_13425delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_011515433.1:p.Arg4467=
XM_011517132.1:c.10116_10140delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_011515434.1:p.Arg3372=
XM_005250976.4:c.13896_13920delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251033.1:p.Arg4632=
XM_005250978.3:c.13497_13521delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251035.1:p.Arg4499=
XM_005250979.4:c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251036.1:p.Arg4495=
XM_005250980.4:c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251037.1:p.Arg4495=
XM_005250981.3:c.13443_13467delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251038.1:p.Arg4481=
XM_005250982.4:c.13419_13443delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251039.1:p.Arg4473=
XM_005250984.5:c.13389_13413delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_005251041.1:p.Arg4463=
XM_006716588.3:c.13566_13590delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_006716651.1:p.Arg4522=
XM_006716590.3:c.13416_13440delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_006716653.1:p.Arg4472=
XM_011517130.2:c.13485_13509delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_011515432.1:p.Arg4495=
XM_011517131.2:c.13401_13425delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_011515433.1:p.Arg4467=
XM_011517132.2:c.10116_10140delinsCACCGGCTCGCGCACCGGCTCCCGG	XP_011515434.1:p.Arg3372=
NM_000445.5:c.13551_13575delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_000436.2:p.Arg4517=
NM_201378.4:c.13428_13452delinsCACCGGCTCGCGCACCGGCTCCCGG MANE Plus Clinical	NP_958780.1:p.Arg4476=
NM_201379.3:c.13404_13428delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958781.1:p.Arg4468=
NM_201380.4:c.13881_13905delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958782.1:p.Arg4627=
NM_201381.3:c.13374_13398delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958783.1:p.Arg4458=
NM_201382.4:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958784.1:p.Arg4490=
NM_201383.3:c.13482_13506delinsCACCGGCTCGCGCACCGGCTCCCGG	NP_958785.1:p.Arg4494=
NM_201384.3:c.13470_13494delinsCACCGGCTCGCGCACCGGCTCCCGG MANE Select	NP_958786.1:p.Arg4490=