Canonical Allele Identifier: CA1826037257

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916484_143916487delinsTAGG , CM000670.2:g.143916484_143916487delinsTAGG	GRCh38
NC_000008.10:g.144990652_144990655delinsTAGG , CM000670.1:g.144990652_144990655delinsTAGG	GRCh37
NC_000008.9:g.145062640_145062643delinsTAGG	NCBI36
NG_012492.1:g.65259_65262delinsCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13466_13469delinsCCTA	ENSP00000437303.2:p.Ser4489=
ENST00000685198.1:c.13385_13388delinsCCTA	ENSP00000510528.1:p.Ser4462=
ENST00000687971.1:c.13052_13055delinsCCTA	ENSP00000510788.1:p.Ser4351=
ENST00000693060.1:c.13265_13268delinsCCTA	ENSP00000510329.1:p.Ser4422=
ENST00000345136.8:c.13334_13337delinsCCTA MANE Select	ENSP00000344848.3:p.Ser4445=
ENST00000527303.2:c.10034_10037delinsCCTA	ENSP00000433982.2:p.Ser3345=
ENST00000322810.8:c.13745_13748delinsCCTA	ENSP00000323856.4:p.Ser4582=
ENST00000345136.7:c.13334_13337delinsCCTA	ENSP00000344848.3:p.Ser4445=
ENST00000354589.7:c.13334_13337delinsCCTA	ENSP00000346602.3:p.Ser4445=
ENST00000354958.6:c.13268_13271delinsCCTA	ENSP00000347044.2:p.Ser4423=
ENST00000356346.7:c.13292_13295delinsCCTA MANE Plus Clinical	ENSP00000348702.3:p.Ser4431=
ENST00000357649.6:c.13346_13349delinsCCTA	ENSP00000350277.2:p.Ser4449=
ENST00000398774.6:c.13238_13241delinsCCTA	ENSP00000381756.2:p.Ser4413=
ENST00000436759.6:c.13415_13418delinsCCTA	ENSP00000388180.2:p.Ser4472=
ENST00000527096.5:c.13403_13406delinsCCTA	ENSP00000434583.1:p.Ser4468=
NM_000445.4:c.13415_13418delinsCCTA	NP_000436.2:p.Ser4472=
NM_201378.3:c.13292_13295delinsCCTA	NP_958780.1:p.Ser4431=
NM_201379.2:c.13268_13271delinsCCTA	NP_958781.1:p.Ser4423=
NM_201380.3:c.13745_13748delinsCCTA	NP_958782.1:p.Ser4582=
NM_201381.2:c.13238_13241delinsCCTA	NP_958783.1:p.Ser4413=
NM_201382.3:c.13334_13337delinsCCTA	NP_958784.1:p.Ser4445=
NM_201383.2:c.13346_13349delinsCCTA	NP_958785.1:p.Ser4449=
NM_201384.2:c.13334_13337delinsCCTA	NP_958786.1:p.Ser4445=
XM_005250976.2:c.13760_13763delinsCCTA	XP_005251033.1:p.Ser4587=
XM_005250978.2:c.13361_13364delinsCCTA	XP_005251035.1:p.Ser4454=
XM_005250979.3:c.13349_13352delinsCCTA	XP_005251036.1:p.Ser4450=
XM_005250980.3:c.13349_13352delinsCCTA	XP_005251037.1:p.Ser4450=
XM_005250981.2:c.13307_13310delinsCCTA	XP_005251038.1:p.Ser4436=
XM_005250982.2:c.13283_13286delinsCCTA	XP_005251039.1:p.Ser4428=
XM_005250983.2:c.13265_13268delinsCCTA	XP_005251040.1:p.Ser4422=
XM_005250984.3:c.13253_13256delinsCCTA	XP_005251041.1:p.Ser4418=
XM_006716588.2:c.13430_13433delinsCCTA	XP_006716651.1:p.Ser4477=
XM_006716589.2:c.13280_13283delinsCCTA	XP_006716652.1:p.Ser4427=
XM_006716590.2:c.13280_13283delinsCCTA	XP_006716653.1:p.Ser4427=
XM_011517130.1:c.13349_13352delinsCCTA	XP_011515432.1:p.Ser4450=
XM_011517131.1:c.13265_13268delinsCCTA	XP_011515433.1:p.Ser4422=
XM_011517132.1:c.9980_9983delinsCCTA	XP_011515434.1:p.Ser3327=
XM_005250976.4:c.13760_13763delinsCCTA	XP_005251033.1:p.Ser4587=
XM_005250978.3:c.13361_13364delinsCCTA	XP_005251035.1:p.Ser4454=
XM_005250979.4:c.13349_13352delinsCCTA	XP_005251036.1:p.Ser4450=
XM_005250980.4:c.13349_13352delinsCCTA	XP_005251037.1:p.Ser4450=
XM_005250981.3:c.13307_13310delinsCCTA	XP_005251038.1:p.Ser4436=
XM_005250982.4:c.13283_13286delinsCCTA	XP_005251039.1:p.Ser4428=
XM_005250984.5:c.13253_13256delinsCCTA	XP_005251041.1:p.Ser4418=
XM_006716588.3:c.13430_13433delinsCCTA	XP_006716651.1:p.Ser4477=
XM_006716590.3:c.13280_13283delinsCCTA	XP_006716653.1:p.Ser4427=
XM_011517130.2:c.13349_13352delinsCCTA	XP_011515432.1:p.Ser4450=
XM_011517131.2:c.13265_13268delinsCCTA	XP_011515433.1:p.Ser4422=
XM_011517132.2:c.9980_9983delinsCCTA	XP_011515434.1:p.Ser3327=
NM_000445.5:c.13415_13418delinsCCTA	NP_000436.2:p.Ser4472=
NM_201378.4:c.13292_13295delinsCCTA MANE Plus Clinical	NP_958780.1:p.Ser4431=
NM_201379.3:c.13268_13271delinsCCTA	NP_958781.1:p.Ser4423=
NM_201380.4:c.13745_13748delinsCCTA	NP_958782.1:p.Ser4582=
NM_201381.3:c.13238_13241delinsCCTA	NP_958783.1:p.Ser4413=
NM_201382.4:c.13334_13337delinsCCTA	NP_958784.1:p.Ser4445=
NM_201383.3:c.13346_13349delinsCCTA	NP_958785.1:p.Ser4449=
NM_201384.3:c.13334_13337delinsCCTA MANE Select	NP_958786.1:p.Ser4445=