Canonical Allele Identifier: CA372474313
Gene: PLEC HGNC NCBI

Linked Data

dbSNP Id: rs868969771

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916350_143916361del , CM000670.2:g.143916350_143916361del GRCh38
NC_000008.10:g.144990518_144990529del , CM000670.1:g.144990518_144990529del GRCh37
NC_000008.9:g.145062506_145062517del NCBI36
NG_012492.1:g.65386_65397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13593_13604del ENSP00000437303.2:p.Gly4532_Thr4535del
ENST00000685198.1:c.13512_13523del ENSP00000510528.1:p.Gly4505_Thr4508del
ENST00000687971.1:c.13179_13190del ENSP00000510788.1:p.Gly4394_Thr4397del
ENST00000693060.1:c.13392_13403del ENSP00000510329.1:p.Gly4465_Thr4468del
ENST00000345136.8:c.13461_13472del MANE Select ENSP00000344848.3:p.Gly4488_Thr4491del
ENST00000527303.2:c.10161_10172del ENSP00000433982.2:p.Gly3388_Thr3391del
ENST00000322810.8:c.13872_13883del ENSP00000323856.4:p.Gly4625_Thr4628del
ENST00000345136.7:c.13461_13472del ENSP00000344848.3:p.Gly4488_Thr4491del
ENST00000354589.7:c.13461_13472del ENSP00000346602.3:p.Gly4488_Thr4491del
ENST00000354958.6:c.13395_13406del ENSP00000347044.2:p.Gly4466_Thr4469del
ENST00000356346.7:c.13419_13430del MANE Plus Clinical ENSP00000348702.3:p.Gly4474_Thr4477del
ENST00000357649.6:c.13473_13484del ENSP00000350277.2:p.Gly4492_Thr4495del
ENST00000398774.6:c.13365_13376del ENSP00000381756.2:p.Gly4456_Thr4459del
ENST00000436759.6:c.13542_13553del ENSP00000388180.2:p.Gly4515_Thr4518del
ENST00000527096.5:c.13530_13541del ENSP00000434583.1:p.Gly4511_Thr4514del
NM_000445.4:c.13542_13553del NP_000436.2:p.Gly4515_Thr4518del
NM_201378.3:c.13419_13430del NP_958780.1:p.Gly4474_Thr4477del
NM_201379.2:c.13395_13406del NP_958781.1:p.Gly4466_Thr4469del
NM_201380.3:c.13872_13883del NP_958782.1:p.Gly4625_Thr4628del
NM_201381.2:c.13365_13376del NP_958783.1:p.Gly4456_Thr4459del
NM_201382.3:c.13461_13472del NP_958784.1:p.Gly4488_Thr4491del
NM_201383.2:c.13473_13484del NP_958785.1:p.Gly4492_Thr4495del
NM_201384.2:c.13461_13472del NP_958786.1:p.Gly4488_Thr4491del
XM_005250976.2:c.13887_13898del XP_005251033.1:p.Gly4630_Thr4633del
XM_005250978.2:c.13488_13499del XP_005251035.1:p.Gly4497_Thr4500del
XM_005250979.3:c.13476_13487del XP_005251036.1:p.Gly4493_Thr4496del
XM_005250980.3:c.13476_13487del XP_005251037.1:p.Gly4493_Thr4496del
XM_005250981.2:c.13434_13445del XP_005251038.1:p.Gly4479_Thr4482del
XM_005250982.2:c.13410_13421del XP_005251039.1:p.Gly4471_Thr4474del
XM_005250983.2:c.13392_13403del XP_005251040.1:p.Gly4465_Thr4468del
XM_005250984.3:c.13380_13391del XP_005251041.1:p.Gly4461_Thr4464del
XM_006716588.2:c.13557_13568del XP_006716651.1:p.Gly4520_Thr4523del
XM_006716589.2:c.13407_13418del XP_006716652.1:p.Gly4470_Thr4473del
XM_006716590.2:c.13407_13418del XP_006716653.1:p.Gly4470_Thr4473del
XM_011517130.1:c.13476_13487del XP_011515432.1:p.Gly4493_Thr4496del
XM_011517131.1:c.13392_13403del XP_011515433.1:p.Gly4465_Thr4468del
XM_011517132.1:c.10107_10118del XP_011515434.1:p.Gly3370_Thr3373del
XM_005250976.4:c.13887_13898del XP_005251033.1:p.Gly4630_Thr4633del
XM_005250978.3:c.13488_13499del XP_005251035.1:p.Gly4497_Thr4500del
XM_005250979.4:c.13476_13487del XP_005251036.1:p.Gly4493_Thr4496del
XM_005250980.4:c.13476_13487del XP_005251037.1:p.Gly4493_Thr4496del
XM_005250981.3:c.13434_13445del XP_005251038.1:p.Gly4479_Thr4482del
XM_005250982.4:c.13410_13421del XP_005251039.1:p.Gly4471_Thr4474del
XM_005250984.5:c.13380_13391del XP_005251041.1:p.Gly4461_Thr4464del
XM_006716588.3:c.13557_13568del XP_006716651.1:p.Gly4520_Thr4523del
XM_006716590.3:c.13407_13418del XP_006716653.1:p.Gly4470_Thr4473del
XM_011517130.2:c.13476_13487del XP_011515432.1:p.Gly4493_Thr4496del
XM_011517131.2:c.13392_13403del XP_011515433.1:p.Gly4465_Thr4468del
XM_011517132.2:c.10107_10118del XP_011515434.1:p.Gly3370_Thr3373del
NM_000445.5:c.13542_13553del NP_000436.2:p.Gly4515_Thr4518del
NM_201378.4:c.13419_13430del MANE Plus Clinical NP_958780.1:p.Gly4474_Thr4477del
NM_201379.3:c.13395_13406del NP_958781.1:p.Gly4466_Thr4469del
NM_201380.4:c.13872_13883del NP_958782.1:p.Gly4625_Thr4628del
NM_201381.3:c.13365_13376del NP_958783.1:p.Gly4456_Thr4459del
NM_201382.4:c.13461_13472del NP_958784.1:p.Gly4488_Thr4491del
NM_201383.3:c.13473_13484del NP_958785.1:p.Gly4492_Thr4495del
NM_201384.3:c.13461_13472del MANE Select NP_958786.1:p.Gly4488_Thr4491del