Canonical Allele Identifier: CA1826036980

Gene: PLEC

Linked Data

• dbSNP Id: rs1367735932
• gnomAD v4: 8-143916342-C-CGAGCCGGTGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916348_143916359dup , CM000670.2:g.143916348_143916359dup	GRCh38
NC_000008.10:g.144990516_144990527dup , CM000670.1:g.144990516_144990527dup	GRCh37
NC_000008.9:g.145062504_145062515dup	NCBI36
NG_012492.1:g.65392_65403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13599_13610dup	ENSP00000437303.2:p.Ser4537_Arg4538insArgThrGlySer
ENST00000685198.1:c.13518_13529dup	ENSP00000510528.1:p.Ser4510_Arg4511insArgThrGlySer
ENST00000687971.1:c.13185_13196dup	ENSP00000510788.1:p.Ser4399_Arg4400insArgThrGlySer
ENST00000693060.1:c.13398_13409dup	ENSP00000510329.1:p.Ser4470_Arg4471insArgThrGlySer
ENST00000345136.8:c.13467_13478dup MANE Select	ENSP00000344848.3:p.Ser4493_Arg4494insArgThrGlySer
ENST00000527303.2:c.10167_10178dup	ENSP00000433982.2:p.Ser3393_Arg3394insArgThrGlySer
ENST00000322810.8:c.13878_13889dup	ENSP00000323856.4:p.Ser4630_Arg4631insArgThrGlySer
ENST00000345136.7:c.13467_13478dup	ENSP00000344848.3:p.Ser4493_Arg4494insArgThrGlySer
ENST00000354589.7:c.13467_13478dup	ENSP00000346602.3:p.Ser4493_Arg4494insArgThrGlySer
ENST00000354958.6:c.13401_13412dup	ENSP00000347044.2:p.Ser4471_Arg4472insArgThrGlySer
ENST00000356346.7:c.13425_13436dup MANE Plus Clinical	ENSP00000348702.3:p.Ser4479_Arg4480insArgThrGlySer
ENST00000357649.6:c.13479_13490dup	ENSP00000350277.2:p.Ser4497_Arg4498insArgThrGlySer
ENST00000398774.6:c.13371_13382dup	ENSP00000381756.2:p.Ser4461_Arg4462insArgThrGlySer
ENST00000436759.6:c.13548_13559dup	ENSP00000388180.2:p.Ser4520_Arg4521insArgThrGlySer
ENST00000527096.5:c.13536_13547dup	ENSP00000434583.1:p.Ser4516_Arg4517insArgThrGlySer
NM_000445.4:c.13548_13559dup	NP_000436.2:p.Ser4520_Arg4521insArgThrGlySer
NM_201378.3:c.13425_13436dup	NP_958780.1:p.Ser4479_Arg4480insArgThrGlySer
NM_201379.2:c.13401_13412dup	NP_958781.1:p.Ser4471_Arg4472insArgThrGlySer
NM_201380.3:c.13878_13889dup	NP_958782.1:p.Ser4630_Arg4631insArgThrGlySer
NM_201381.2:c.13371_13382dup	NP_958783.1:p.Ser4461_Arg4462insArgThrGlySer
NM_201382.3:c.13467_13478dup	NP_958784.1:p.Ser4493_Arg4494insArgThrGlySer
NM_201383.2:c.13479_13490dup	NP_958785.1:p.Ser4497_Arg4498insArgThrGlySer
NM_201384.2:c.13467_13478dup	NP_958786.1:p.Ser4493_Arg4494insArgThrGlySer
XM_005250976.2:c.13893_13904dup	XP_005251033.1:p.Ser4635_Arg4636insArgThrGlySer
XM_005250978.2:c.13494_13505dup	XP_005251035.1:p.Ser4502_Arg4503insArgThrGlySer
XM_005250979.3:c.13482_13493dup	XP_005251036.1:p.Ser4498_Arg4499insArgThrGlySer
XM_005250980.3:c.13482_13493dup	XP_005251037.1:p.Ser4498_Arg4499insArgThrGlySer
XM_005250981.2:c.13440_13451dup	XP_005251038.1:p.Ser4484_Arg4485insArgThrGlySer
XM_005250982.2:c.13416_13427dup	XP_005251039.1:p.Ser4476_Arg4477insArgThrGlySer
XM_005250983.2:c.13398_13409dup	XP_005251040.1:p.Ser4470_Arg4471insArgThrGlySer
XM_005250984.3:c.13386_13397dup	XP_005251041.1:p.Ser4466_Arg4467insArgThrGlySer
XM_006716588.2:c.13563_13574dup	XP_006716651.1:p.Ser4525_Arg4526insArgThrGlySer
XM_006716589.2:c.13413_13424dup	XP_006716652.1:p.Ser4475_Arg4476insArgThrGlySer
XM_006716590.2:c.13413_13424dup	XP_006716653.1:p.Ser4475_Arg4476insArgThrGlySer
XM_011517130.1:c.13482_13493dup	XP_011515432.1:p.Ser4498_Arg4499insArgThrGlySer
XM_011517131.1:c.13398_13409dup	XP_011515433.1:p.Ser4470_Arg4471insArgThrGlySer
XM_011517132.1:c.10113_10124dup	XP_011515434.1:p.Ser3375_Arg3376insArgThrGlySer
XM_005250976.4:c.13893_13904dup	XP_005251033.1:p.Ser4635_Arg4636insArgThrGlySer
XM_005250978.3:c.13494_13505dup	XP_005251035.1:p.Ser4502_Arg4503insArgThrGlySer
XM_005250979.4:c.13482_13493dup	XP_005251036.1:p.Ser4498_Arg4499insArgThrGlySer
XM_005250980.4:c.13482_13493dup	XP_005251037.1:p.Ser4498_Arg4499insArgThrGlySer
XM_005250981.3:c.13440_13451dup	XP_005251038.1:p.Ser4484_Arg4485insArgThrGlySer
XM_005250982.4:c.13416_13427dup	XP_005251039.1:p.Ser4476_Arg4477insArgThrGlySer
XM_005250984.5:c.13386_13397dup	XP_005251041.1:p.Ser4466_Arg4467insArgThrGlySer
XM_006716588.3:c.13563_13574dup	XP_006716651.1:p.Ser4525_Arg4526insArgThrGlySer
XM_006716590.3:c.13413_13424dup	XP_006716653.1:p.Ser4475_Arg4476insArgThrGlySer
XM_011517130.2:c.13482_13493dup	XP_011515432.1:p.Ser4498_Arg4499insArgThrGlySer
XM_011517131.2:c.13398_13409dup	XP_011515433.1:p.Ser4470_Arg4471insArgThrGlySer
XM_011517132.2:c.10113_10124dup	XP_011515434.1:p.Ser3375_Arg3376insArgThrGlySer
NM_000445.5:c.13548_13559dup	NP_000436.2:p.Ser4520_Arg4521insArgThrGlySer
NM_201378.4:c.13425_13436dup MANE Plus Clinical	NP_958780.1:p.Ser4479_Arg4480insArgThrGlySer
NM_201379.3:c.13401_13412dup	NP_958781.1:p.Ser4471_Arg4472insArgThrGlySer
NM_201380.4:c.13878_13889dup	NP_958782.1:p.Ser4630_Arg4631insArgThrGlySer
NM_201381.3:c.13371_13382dup	NP_958783.1:p.Ser4461_Arg4462insArgThrGlySer
NM_201382.4:c.13467_13478dup	NP_958784.1:p.Ser4493_Arg4494insArgThrGlySer
NM_201383.3:c.13479_13490dup	NP_958785.1:p.Ser4497_Arg4498insArgThrGlySer
NM_201384.3:c.13467_13478dup MANE Select	NP_958786.1:p.Ser4493_Arg4494insArgThrGlySer