Canonical Allele Identifier: CA1120226743
Gene: PLEC HGNC NCBI

Linked Data

dbSNP Id: rs782323828
gnomAD v3: 8-143916360-A-AGCCGGTGCGCGAGCCGGTGCGGGAGCCG
gnomAD v4: 8-143916360-A-AGCCGGTGCGCGAGCCGGTGCGGGAGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916362_143916363insCGGTGCGCGAGCCGGTGCGGGAGCCGGC , CM000670.2:g.143916362_143916363insCGGTGCGCGAGCCGGTGCGGGAGCCGGC GRCh38
NC_000008.10:g.144990530_144990531insCGGTGCGCGAGCCGGTGCGGGAGCCGGC , CM000670.1:g.144990530_144990531insCGGTGCGCGAGCCGGTGCGGGAGCCGGC GRCh37
NC_000008.9:g.145062518_145062519insCGGTGCGCGAGCCGGTGCGGGAGCCGGC NCBI36
NG_012492.1:g.65385_65386insCGGCTCCCGCACCGGCTCGCGCACCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13592_13593insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000437303.2:p.Ser4541TrpfsTer20
ENST00000685198.1:c.13511_13512insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000510528.1:p.Ser4514TrpfsTer20
ENST00000687971.1:c.13178_13179insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000510788.1:p.Ser4403TrpfsTer20
ENST00000693060.1:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000510329.1:p.Ser4474TrpfsTer20
ENST00000345136.8:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC MANE Select ENSP00000344848.3:p.Ser4497TrpfsTer20
ENST00000527303.2:c.10160_10161insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000433982.2:p.Ser3397TrpfsTer20
ENST00000322810.8:c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000323856.4:p.Ser4634TrpfsTer20
ENST00000345136.7:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000344848.3:p.Ser4497TrpfsTer20
ENST00000354589.7:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000346602.3:p.Ser4497TrpfsTer20
ENST00000354958.6:c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000347044.2:p.Ser4475TrpfsTer20
ENST00000356346.7:c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGC MANE Plus Clinical ENSP00000348702.3:p.Ser4483TrpfsTer20
ENST00000357649.6:c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000350277.2:p.Ser4501TrpfsTer20
ENST00000398774.6:c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000381756.2:p.Ser4465TrpfsTer20
ENST00000436759.6:c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000388180.2:p.Ser4524TrpfsTer20
ENST00000527096.5:c.13529_13530insCGGCTCCCGCACCGGCTCGCGCACCGGC ENSP00000434583.1:p.Ser4520TrpfsTer20
NM_000445.4:c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_000436.2:p.Ser4524TrpfsTer20
NM_201378.3:c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958780.1:p.Ser4483TrpfsTer20
NM_201379.2:c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958781.1:p.Ser4475TrpfsTer20
NM_201380.3:c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958782.1:p.Ser4634TrpfsTer20
NM_201381.2:c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958783.1:p.Ser4465TrpfsTer20
NM_201382.3:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958784.1:p.Ser4497TrpfsTer20
NM_201383.2:c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958785.1:p.Ser4501TrpfsTer20
NM_201384.2:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958786.1:p.Ser4497TrpfsTer20
XM_005250976.2:c.13886_13887insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251033.1:p.Ser4639TrpfsTer20
XM_005250978.2:c.13487_13488insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251035.1:p.Ser4506TrpfsTer20
XM_005250979.3:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251036.1:p.Ser4502TrpfsTer20
XM_005250980.3:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251037.1:p.Ser4502TrpfsTer20
XM_005250981.2:c.13433_13434insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251038.1:p.Ser4488TrpfsTer20
XM_005250982.2:c.13409_13410insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251039.1:p.Ser4480TrpfsTer20
XM_005250983.2:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251040.1:p.Ser4474TrpfsTer20
XM_005250984.3:c.13379_13380insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251041.1:p.Ser4470TrpfsTer20
XM_006716588.2:c.13556_13557insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_006716651.1:p.Ser4529TrpfsTer20
XM_006716589.2:c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_006716652.1:p.Ser4479TrpfsTer20
XM_006716590.2:c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_006716653.1:p.Ser4479TrpfsTer20
XM_011517130.1:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_011515432.1:p.Ser4502TrpfsTer20
XM_011517131.1:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_011515433.1:p.Ser4474TrpfsTer20
XM_011517132.1:c.10106_10107insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_011515434.1:p.Ser3379TrpfsTer20
XM_005250976.4:c.13886_13887insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251033.1:p.Ser4639TrpfsTer20
XM_005250978.3:c.13487_13488insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251035.1:p.Ser4506TrpfsTer20
XM_005250979.4:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251036.1:p.Ser4502TrpfsTer20
XM_005250980.4:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251037.1:p.Ser4502TrpfsTer20
XM_005250981.3:c.13433_13434insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251038.1:p.Ser4488TrpfsTer20
XM_005250982.4:c.13409_13410insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251039.1:p.Ser4480TrpfsTer20
XM_005250984.5:c.13379_13380insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_005251041.1:p.Ser4470TrpfsTer20
XM_006716588.3:c.13556_13557insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_006716651.1:p.Ser4529TrpfsTer20
XM_006716590.3:c.13406_13407insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_006716653.1:p.Ser4479TrpfsTer20
XM_011517130.2:c.13475_13476insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_011515432.1:p.Ser4502TrpfsTer20
XM_011517131.2:c.13391_13392insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_011515433.1:p.Ser4474TrpfsTer20
XM_011517132.2:c.10106_10107insCGGCTCCCGCACCGGCTCGCGCACCGGC XP_011515434.1:p.Ser3379TrpfsTer20
NM_000445.5:c.13541_13542insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_000436.2:p.Ser4524TrpfsTer20
NM_201378.4:c.13418_13419insCGGCTCCCGCACCGGCTCGCGCACCGGC MANE Plus Clinical NP_958780.1:p.Ser4483TrpfsTer20
NM_201379.3:c.13394_13395insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958781.1:p.Ser4475TrpfsTer20
NM_201380.4:c.13871_13872insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958782.1:p.Ser4634TrpfsTer20
NM_201381.3:c.13364_13365insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958783.1:p.Ser4465TrpfsTer20
NM_201382.4:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958784.1:p.Ser4497TrpfsTer20
NM_201383.3:c.13472_13473insCGGCTCCCGCACCGGCTCGCGCACCGGC NP_958785.1:p.Ser4501TrpfsTer20
NM_201384.3:c.13460_13461insCGGCTCCCGCACCGGCTCGCGCACCGGC MANE Select NP_958786.1:p.Ser4497TrpfsTer20
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