Canonical Allele Identifier: CA1826037003
Gene: PLEC HGNC NCBI

Linked Data

dbSNP Id: rs1820536690

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916359_143916360insGGCGCGGGAGCC , CM000670.2:g.143916359_143916360insGGCGCGGGAGCC GRCh38
NC_000008.10:g.144990527_144990528insGGCGCGGGAGCC , CM000670.1:g.144990527_144990528insGGCGCGGGAGCC GRCh37
NC_000008.9:g.145062515_145062516insGGCGCGGGAGCC NCBI36
NG_012492.1:g.65395_65396insGCCGGCTCCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13602_13603insGCCGGCTCCCGC ENSP00000437303.2:p.Arg4534_Thr4535insAlaGlySerArg
ENST00000685198.1:c.13521_13522insGCCGGCTCCCGC ENSP00000510528.1:p.Arg4507_Thr4508insAlaGlySerArg
ENST00000687971.1:c.13188_13189insGCCGGCTCCCGC ENSP00000510788.1:p.Arg4396_Thr4397insAlaGlySerArg
ENST00000693060.1:c.13401_13402insGCCGGCTCCCGC ENSP00000510329.1:p.Arg4467_Thr4468insAlaGlySerArg
ENST00000345136.8:c.13470_13471insGCCGGCTCCCGC MANE Select ENSP00000344848.3:p.Arg4490_Thr4491insAlaGlySerArg
ENST00000527303.2:c.10170_10171insGCCGGCTCCCGC ENSP00000433982.2:p.Arg3390_Thr3391insAlaGlySerArg
ENST00000322810.8:c.13881_13882insGCCGGCTCCCGC ENSP00000323856.4:p.Arg4627_Thr4628insAlaGlySerArg
ENST00000345136.7:c.13470_13471insGCCGGCTCCCGC ENSP00000344848.3:p.Arg4490_Thr4491insAlaGlySerArg
ENST00000354589.7:c.13470_13471insGCCGGCTCCCGC ENSP00000346602.3:p.Arg4490_Thr4491insAlaGlySerArg
ENST00000354958.6:c.13404_13405insGCCGGCTCCCGC ENSP00000347044.2:p.Arg4468_Thr4469insAlaGlySerArg
ENST00000356346.7:c.13428_13429insGCCGGCTCCCGC MANE Plus Clinical ENSP00000348702.3:p.Arg4476_Thr4477insAlaGlySerArg
ENST00000357649.6:c.13482_13483insGCCGGCTCCCGC ENSP00000350277.2:p.Arg4494_Thr4495insAlaGlySerArg
ENST00000398774.6:c.13374_13375insGCCGGCTCCCGC ENSP00000381756.2:p.Arg4458_Thr4459insAlaGlySerArg
ENST00000436759.6:c.13551_13552insGCCGGCTCCCGC ENSP00000388180.2:p.Arg4517_Thr4518insAlaGlySerArg
ENST00000527096.5:c.13539_13540insGCCGGCTCCCGC ENSP00000434583.1:p.Arg4513_Thr4514insAlaGlySerArg
NM_000445.4:c.13551_13552insGCCGGCTCCCGC NP_000436.2:p.Arg4517_Thr4518insAlaGlySerArg
NM_201378.3:c.13428_13429insGCCGGCTCCCGC NP_958780.1:p.Arg4476_Thr4477insAlaGlySerArg
NM_201379.2:c.13404_13405insGCCGGCTCCCGC NP_958781.1:p.Arg4468_Thr4469insAlaGlySerArg
NM_201380.3:c.13881_13882insGCCGGCTCCCGC NP_958782.1:p.Arg4627_Thr4628insAlaGlySerArg
NM_201381.2:c.13374_13375insGCCGGCTCCCGC NP_958783.1:p.Arg4458_Thr4459insAlaGlySerArg
NM_201382.3:c.13470_13471insGCCGGCTCCCGC NP_958784.1:p.Arg4490_Thr4491insAlaGlySerArg
NM_201383.2:c.13482_13483insGCCGGCTCCCGC NP_958785.1:p.Arg4494_Thr4495insAlaGlySerArg
NM_201384.2:c.13470_13471insGCCGGCTCCCGC NP_958786.1:p.Arg4490_Thr4491insAlaGlySerArg
XM_005250976.2:c.13896_13897insGCCGGCTCCCGC XP_005251033.1:p.Arg4632_Thr4633insAlaGlySerArg
XM_005250978.2:c.13497_13498insGCCGGCTCCCGC XP_005251035.1:p.Arg4499_Thr4500insAlaGlySerArg
XM_005250979.3:c.13485_13486insGCCGGCTCCCGC XP_005251036.1:p.Arg4495_Thr4496insAlaGlySerArg
XM_005250980.3:c.13485_13486insGCCGGCTCCCGC XP_005251037.1:p.Arg4495_Thr4496insAlaGlySerArg
XM_005250981.2:c.13443_13444insGCCGGCTCCCGC XP_005251038.1:p.Arg4481_Thr4482insAlaGlySerArg
XM_005250982.2:c.13419_13420insGCCGGCTCCCGC XP_005251039.1:p.Arg4473_Thr4474insAlaGlySerArg
XM_005250983.2:c.13401_13402insGCCGGCTCCCGC XP_005251040.1:p.Arg4467_Thr4468insAlaGlySerArg
XM_005250984.3:c.13389_13390insGCCGGCTCCCGC XP_005251041.1:p.Arg4463_Thr4464insAlaGlySerArg
XM_006716588.2:c.13566_13567insGCCGGCTCCCGC XP_006716651.1:p.Arg4522_Thr4523insAlaGlySerArg
XM_006716589.2:c.13416_13417insGCCGGCTCCCGC XP_006716652.1:p.Arg4472_Thr4473insAlaGlySerArg
XM_006716590.2:c.13416_13417insGCCGGCTCCCGC XP_006716653.1:p.Arg4472_Thr4473insAlaGlySerArg
XM_011517130.1:c.13485_13486insGCCGGCTCCCGC XP_011515432.1:p.Arg4495_Thr4496insAlaGlySerArg
XM_011517131.1:c.13401_13402insGCCGGCTCCCGC XP_011515433.1:p.Arg4467_Thr4468insAlaGlySerArg
XM_011517132.1:c.10116_10117insGCCGGCTCCCGC XP_011515434.1:p.Arg3372_Thr3373insAlaGlySerArg
XM_005250976.4:c.13896_13897insGCCGGCTCCCGC XP_005251033.1:p.Arg4632_Thr4633insAlaGlySerArg
XM_005250978.3:c.13497_13498insGCCGGCTCCCGC XP_005251035.1:p.Arg4499_Thr4500insAlaGlySerArg
XM_005250979.4:c.13485_13486insGCCGGCTCCCGC XP_005251036.1:p.Arg4495_Thr4496insAlaGlySerArg
XM_005250980.4:c.13485_13486insGCCGGCTCCCGC XP_005251037.1:p.Arg4495_Thr4496insAlaGlySerArg
XM_005250981.3:c.13443_13444insGCCGGCTCCCGC XP_005251038.1:p.Arg4481_Thr4482insAlaGlySerArg
XM_005250982.4:c.13419_13420insGCCGGCTCCCGC XP_005251039.1:p.Arg4473_Thr4474insAlaGlySerArg
XM_005250984.5:c.13389_13390insGCCGGCTCCCGC XP_005251041.1:p.Arg4463_Thr4464insAlaGlySerArg
XM_006716588.3:c.13566_13567insGCCGGCTCCCGC XP_006716651.1:p.Arg4522_Thr4523insAlaGlySerArg
XM_006716590.3:c.13416_13417insGCCGGCTCCCGC XP_006716653.1:p.Arg4472_Thr4473insAlaGlySerArg
XM_011517130.2:c.13485_13486insGCCGGCTCCCGC XP_011515432.1:p.Arg4495_Thr4496insAlaGlySerArg
XM_011517131.2:c.13401_13402insGCCGGCTCCCGC XP_011515433.1:p.Arg4467_Thr4468insAlaGlySerArg
XM_011517132.2:c.10116_10117insGCCGGCTCCCGC XP_011515434.1:p.Arg3372_Thr3373insAlaGlySerArg
NM_000445.5:c.13551_13552insGCCGGCTCCCGC NP_000436.2:p.Arg4517_Thr4518insAlaGlySerArg
NM_201378.4:c.13428_13429insGCCGGCTCCCGC MANE Plus Clinical NP_958780.1:p.Arg4476_Thr4477insAlaGlySerArg
NM_201379.3:c.13404_13405insGCCGGCTCCCGC NP_958781.1:p.Arg4468_Thr4469insAlaGlySerArg
NM_201380.4:c.13881_13882insGCCGGCTCCCGC NP_958782.1:p.Arg4627_Thr4628insAlaGlySerArg
NM_201381.3:c.13374_13375insGCCGGCTCCCGC NP_958783.1:p.Arg4458_Thr4459insAlaGlySerArg
NM_201382.4:c.13470_13471insGCCGGCTCCCGC NP_958784.1:p.Arg4490_Thr4491insAlaGlySerArg
NM_201383.3:c.13482_13483insGCCGGCTCCCGC NP_958785.1:p.Arg4494_Thr4495insAlaGlySerArg
NM_201384.3:c.13470_13471insGCCGGCTCCCGC MANE Select NP_958786.1:p.Arg4490_Thr4491insAlaGlySerArg