Canonical Allele Identifier: CA4923802

Gene: PLEC

Linked Data

• dbSNP Id: rs782323828
• ExAC: 8:144990528 A / AGCCG
• gnomAD v2: 8-144990528-A-AGCCG
• gnomAD v3: 8-143916360-A-AGCCG
• gnomAD v4: 8-143916360-A-AGCCG
• MyVariant Identifiers: chr8:g.144990528_144990529insGCCG (hg19) ; chr8:g.143916360_143916361insGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916362_143916363insCGGC , CM000670.2:g.143916362_143916363insCGGC	GRCh38
NC_000008.10:g.144990530_144990531insCGGC , CM000670.1:g.144990530_144990531insCGGC	GRCh37
NC_000008.9:g.145062518_145062519insCGGC	NCBI36
NG_012492.1:g.65385_65386insCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13592_13593insCGGC	ENSP00000437303.2:p.Ser4533TrpfsTer20
ENST00000685198.1:c.13511_13512insCGGC	ENSP00000510528.1:p.Ser4506TrpfsTer20
ENST00000687971.1:c.13178_13179insCGGC	ENSP00000510788.1:p.Ser4395TrpfsTer20
ENST00000693060.1:c.13391_13392insCGGC	ENSP00000510329.1:p.Ser4466TrpfsTer20
ENST00000345136.8:c.13460_13461insCGGC MANE Select	ENSP00000344848.3:p.Ser4489TrpfsTer20
ENST00000527303.2:c.10160_10161insCGGC	ENSP00000433982.2:p.Ser3389TrpfsTer20
ENST00000322810.8:c.13871_13872insCGGC	ENSP00000323856.4:p.Ser4626TrpfsTer20
ENST00000345136.7:c.13460_13461insCGGC	ENSP00000344848.3:p.Ser4489TrpfsTer20
ENST00000354589.7:c.13460_13461insCGGC	ENSP00000346602.3:p.Ser4489TrpfsTer20
ENST00000354958.6:c.13394_13395insCGGC	ENSP00000347044.2:p.Ser4467TrpfsTer20
ENST00000356346.7:c.13418_13419insCGGC MANE Plus Clinical	ENSP00000348702.3:p.Ser4475TrpfsTer20
ENST00000357649.6:c.13472_13473insCGGC	ENSP00000350277.2:p.Ser4493TrpfsTer20
ENST00000398774.6:c.13364_13365insCGGC	ENSP00000381756.2:p.Ser4457TrpfsTer20
ENST00000436759.6:c.13541_13542insCGGC	ENSP00000388180.2:p.Ser4516TrpfsTer20
ENST00000527096.5:c.13529_13530insCGGC	ENSP00000434583.1:p.Ser4512TrpfsTer20
NM_000445.4:c.13541_13542insCGGC	NP_000436.2:p.Ser4516TrpfsTer20
NM_201378.3:c.13418_13419insCGGC	NP_958780.1:p.Ser4475TrpfsTer20
NM_201379.2:c.13394_13395insCGGC	NP_958781.1:p.Ser4467TrpfsTer20
NM_201380.3:c.13871_13872insCGGC	NP_958782.1:p.Ser4626TrpfsTer20
NM_201381.2:c.13364_13365insCGGC	NP_958783.1:p.Ser4457TrpfsTer20
NM_201382.3:c.13460_13461insCGGC	NP_958784.1:p.Ser4489TrpfsTer20
NM_201383.2:c.13472_13473insCGGC	NP_958785.1:p.Ser4493TrpfsTer20
NM_201384.2:c.13460_13461insCGGC	NP_958786.1:p.Ser4489TrpfsTer20
XM_005250976.2:c.13886_13887insCGGC	XP_005251033.1:p.Ser4631TrpfsTer20
XM_005250978.2:c.13487_13488insCGGC	XP_005251035.1:p.Ser4498TrpfsTer20
XM_005250979.3:c.13475_13476insCGGC	XP_005251036.1:p.Ser4494TrpfsTer20
XM_005250980.3:c.13475_13476insCGGC	XP_005251037.1:p.Ser4494TrpfsTer20
XM_005250981.2:c.13433_13434insCGGC	XP_005251038.1:p.Ser4480TrpfsTer20
XM_005250982.2:c.13409_13410insCGGC	XP_005251039.1:p.Ser4472TrpfsTer20
XM_005250983.2:c.13391_13392insCGGC	XP_005251040.1:p.Ser4466TrpfsTer20
XM_005250984.3:c.13379_13380insCGGC	XP_005251041.1:p.Ser4462TrpfsTer20
XM_006716588.2:c.13556_13557insCGGC	XP_006716651.1:p.Ser4521TrpfsTer20
XM_006716589.2:c.13406_13407insCGGC	XP_006716652.1:p.Ser4471TrpfsTer20
XM_006716590.2:c.13406_13407insCGGC	XP_006716653.1:p.Ser4471TrpfsTer20
XM_011517130.1:c.13475_13476insCGGC	XP_011515432.1:p.Ser4494TrpfsTer20
XM_011517131.1:c.13391_13392insCGGC	XP_011515433.1:p.Ser4466TrpfsTer20
XM_011517132.1:c.10106_10107insCGGC	XP_011515434.1:p.Ser3371TrpfsTer20
XM_005250976.4:c.13886_13887insCGGC	XP_005251033.1:p.Ser4631TrpfsTer20
XM_005250978.3:c.13487_13488insCGGC	XP_005251035.1:p.Ser4498TrpfsTer20
XM_005250979.4:c.13475_13476insCGGC	XP_005251036.1:p.Ser4494TrpfsTer20
XM_005250980.4:c.13475_13476insCGGC	XP_005251037.1:p.Ser4494TrpfsTer20
XM_005250981.3:c.13433_13434insCGGC	XP_005251038.1:p.Ser4480TrpfsTer20
XM_005250982.4:c.13409_13410insCGGC	XP_005251039.1:p.Ser4472TrpfsTer20
XM_005250984.5:c.13379_13380insCGGC	XP_005251041.1:p.Ser4462TrpfsTer20
XM_006716588.3:c.13556_13557insCGGC	XP_006716651.1:p.Ser4521TrpfsTer20
XM_006716590.3:c.13406_13407insCGGC	XP_006716653.1:p.Ser4471TrpfsTer20
XM_011517130.2:c.13475_13476insCGGC	XP_011515432.1:p.Ser4494TrpfsTer20
XM_011517131.2:c.13391_13392insCGGC	XP_011515433.1:p.Ser4466TrpfsTer20
XM_011517132.2:c.10106_10107insCGGC	XP_011515434.1:p.Ser3371TrpfsTer20
NM_000445.5:c.13541_13542insCGGC	NP_000436.2:p.Ser4516TrpfsTer20
NM_201378.4:c.13418_13419insCGGC MANE Plus Clinical	NP_958780.1:p.Ser4475TrpfsTer20
NM_201379.3:c.13394_13395insCGGC	NP_958781.1:p.Ser4467TrpfsTer20
NM_201380.4:c.13871_13872insCGGC	NP_958782.1:p.Ser4626TrpfsTer20
NM_201381.3:c.13364_13365insCGGC	NP_958783.1:p.Ser4457TrpfsTer20
NM_201382.4:c.13460_13461insCGGC	NP_958784.1:p.Ser4489TrpfsTer20
NM_201383.3:c.13472_13473insCGGC	NP_958785.1:p.Ser4493TrpfsTer20
NM_201384.3:c.13460_13461insCGGC MANE Select	NP_958786.1:p.Ser4489TrpfsTer20