Canonical Allele Identifier: CA1120226740

Gene: PLEC

Linked Data

• dbSNP Id: rs782181247
• gnomAD v3: 8-143916359-C-CGGCCCGGG
• gnomAD v4: 8-143916359-C-CGGCCCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916359_143916360insGGCCCGGG , CM000670.2:g.143916359_143916360insGGCCCGGG	GRCh38
NC_000008.10:g.144990527_144990528insGGCCCGGG , CM000670.1:g.144990527_144990528insGGCCCGGG	GRCh37
NC_000008.9:g.145062515_145062516insGGCCCGGG	NCBI36
NG_012492.1:g.65386_65387insCCCGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13593_13594insCCCGGGCC	ENSP00000437303.2:p.Gly4532ProfsTer31
ENST00000685198.1:c.13512_13513insCCCGGGCC	ENSP00000510528.1:p.Gly4505ProfsTer31
ENST00000687971.1:c.13179_13180insCCCGGGCC	ENSP00000510788.1:p.Gly4394ProfsTer31
ENST00000693060.1:c.13392_13393insCCCGGGCC	ENSP00000510329.1:p.Gly4465ProfsTer31
ENST00000345136.8:c.13461_13462insCCCGGGCC MANE Select	ENSP00000344848.3:p.Gly4488ProfsTer31
ENST00000527303.2:c.10161_10162insCCCGGGCC	ENSP00000433982.2:p.Gly3388ProfsTer31
ENST00000322810.8:c.13872_13873insCCCGGGCC	ENSP00000323856.4:p.Gly4625ProfsTer31
ENST00000345136.7:c.13461_13462insCCCGGGCC	ENSP00000344848.3:p.Gly4488ProfsTer31
ENST00000354589.7:c.13461_13462insCCCGGGCC	ENSP00000346602.3:p.Gly4488ProfsTer31
ENST00000354958.6:c.13395_13396insCCCGGGCC	ENSP00000347044.2:p.Gly4466ProfsTer31
ENST00000356346.7:c.13419_13420insCCCGGGCC MANE Plus Clinical	ENSP00000348702.3:p.Gly4474ProfsTer31
ENST00000357649.6:c.13473_13474insCCCGGGCC	ENSP00000350277.2:p.Gly4492ProfsTer31
ENST00000398774.6:c.13365_13366insCCCGGGCC	ENSP00000381756.2:p.Gly4456ProfsTer31
ENST00000436759.6:c.13542_13543insCCCGGGCC	ENSP00000388180.2:p.Gly4515ProfsTer31
ENST00000527096.5:c.13530_13531insCCCGGGCC	ENSP00000434583.1:p.Gly4511ProfsTer31
NM_000445.4:c.13542_13543insCCCGGGCC	NP_000436.2:p.Gly4515ProfsTer31
NM_201378.3:c.13419_13420insCCCGGGCC	NP_958780.1:p.Gly4474ProfsTer31
NM_201379.2:c.13395_13396insCCCGGGCC	NP_958781.1:p.Gly4466ProfsTer31
NM_201380.3:c.13872_13873insCCCGGGCC	NP_958782.1:p.Gly4625ProfsTer31
NM_201381.2:c.13365_13366insCCCGGGCC	NP_958783.1:p.Gly4456ProfsTer31
NM_201382.3:c.13461_13462insCCCGGGCC	NP_958784.1:p.Gly4488ProfsTer31
NM_201383.2:c.13473_13474insCCCGGGCC	NP_958785.1:p.Gly4492ProfsTer31
NM_201384.2:c.13461_13462insCCCGGGCC	NP_958786.1:p.Gly4488ProfsTer31
XM_005250976.2:c.13887_13888insCCCGGGCC	XP_005251033.1:p.Gly4630ProfsTer31
XM_005250978.2:c.13488_13489insCCCGGGCC	XP_005251035.1:p.Gly4497ProfsTer31
XM_005250979.3:c.13476_13477insCCCGGGCC	XP_005251036.1:p.Gly4493ProfsTer31
XM_005250980.3:c.13476_13477insCCCGGGCC	XP_005251037.1:p.Gly4493ProfsTer31
XM_005250981.2:c.13434_13435insCCCGGGCC	XP_005251038.1:p.Gly4479ProfsTer31
XM_005250982.2:c.13410_13411insCCCGGGCC	XP_005251039.1:p.Gly4471ProfsTer31
XM_005250983.2:c.13392_13393insCCCGGGCC	XP_005251040.1:p.Gly4465ProfsTer31
XM_005250984.3:c.13380_13381insCCCGGGCC	XP_005251041.1:p.Gly4461ProfsTer31
XM_006716588.2:c.13557_13558insCCCGGGCC	XP_006716651.1:p.Gly4520ProfsTer31
XM_006716589.2:c.13407_13408insCCCGGGCC	XP_006716652.1:p.Gly4470ProfsTer31
XM_006716590.2:c.13407_13408insCCCGGGCC	XP_006716653.1:p.Gly4470ProfsTer31
XM_011517130.1:c.13476_13477insCCCGGGCC	XP_011515432.1:p.Gly4493ProfsTer31
XM_011517131.1:c.13392_13393insCCCGGGCC	XP_011515433.1:p.Gly4465ProfsTer31
XM_011517132.1:c.10107_10108insCCCGGGCC	XP_011515434.1:p.Gly3370ProfsTer31
XM_005250976.4:c.13887_13888insCCCGGGCC	XP_005251033.1:p.Gly4630ProfsTer31
XM_005250978.3:c.13488_13489insCCCGGGCC	XP_005251035.1:p.Gly4497ProfsTer31
XM_005250979.4:c.13476_13477insCCCGGGCC	XP_005251036.1:p.Gly4493ProfsTer31
XM_005250980.4:c.13476_13477insCCCGGGCC	XP_005251037.1:p.Gly4493ProfsTer31
XM_005250981.3:c.13434_13435insCCCGGGCC	XP_005251038.1:p.Gly4479ProfsTer31
XM_005250982.4:c.13410_13411insCCCGGGCC	XP_005251039.1:p.Gly4471ProfsTer31
XM_005250984.5:c.13380_13381insCCCGGGCC	XP_005251041.1:p.Gly4461ProfsTer31
XM_006716588.3:c.13557_13558insCCCGGGCC	XP_006716651.1:p.Gly4520ProfsTer31
XM_006716590.3:c.13407_13408insCCCGGGCC	XP_006716653.1:p.Gly4470ProfsTer31
XM_011517130.2:c.13476_13477insCCCGGGCC	XP_011515432.1:p.Gly4493ProfsTer31
XM_011517131.2:c.13392_13393insCCCGGGCC	XP_011515433.1:p.Gly4465ProfsTer31
XM_011517132.2:c.10107_10108insCCCGGGCC	XP_011515434.1:p.Gly3370ProfsTer31
NM_000445.5:c.13542_13543insCCCGGGCC	NP_000436.2:p.Gly4515ProfsTer31
NM_201378.4:c.13419_13420insCCCGGGCC MANE Plus Clinical	NP_958780.1:p.Gly4474ProfsTer31
NM_201379.3:c.13395_13396insCCCGGGCC	NP_958781.1:p.Gly4466ProfsTer31
NM_201380.4:c.13872_13873insCCCGGGCC	NP_958782.1:p.Gly4625ProfsTer31
NM_201381.3:c.13365_13366insCCCGGGCC	NP_958783.1:p.Gly4456ProfsTer31
NM_201382.4:c.13461_13462insCCCGGGCC	NP_958784.1:p.Gly4488ProfsTer31
NM_201383.3:c.13473_13474insCCCGGGCC	NP_958785.1:p.Gly4492ProfsTer31
NM_201384.3:c.13461_13462insCCCGGGCC MANE Select	NP_958786.1:p.Gly4488ProfsTer31