Canonical Allele Identifier: CA2840001709
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143930167dup , CM000670.2:g.143930167dup GRCh38
NC_000008.10:g.145004335dup , CM000670.1:g.145004335dup GRCh37
NC_000008.9:g.145076323dup NCBI36
NG_012492.1:g.51580dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.2722dup ENSP00000437303.2:p.Glu908GlyfsTer?
ENST00000685198.1:c.2641dup ENSP00000510528.1:p.Glu881GlyfsTer?
ENST00000687971.1:c.2308dup ENSP00000510788.1:p.Glu770GlyfsTer?
ENST00000693060.1:c.2521dup ENSP00000510329.1:p.Glu841GlyfsTer?
ENST00000345136.8:c.2590dup MANE Select ENSP00000344848.3:p.Glu864GlyfsTer?
ENST00000527303.2:c.2671dup ENSP00000433982.2:p.Glu891GlyfsTer?
ENST00000322810.8:c.3001dup ENSP00000323856.4:p.Glu1001GlyfsTer?
ENST00000345136.7:c.2590dup ENSP00000344848.3:p.Glu864GlyfsTer?
ENST00000354589.7:c.2590dup ENSP00000346602.3:p.Glu864GlyfsTer?
ENST00000354958.6:c.2524dup ENSP00000347044.2:p.Glu842GlyfsTer?
ENST00000356346.7:c.2548dup MANE Plus Clinical ENSP00000348702.3:p.Glu850GlyfsTer?
ENST00000357649.6:c.2602dup ENSP00000350277.2:p.Glu868GlyfsTer?
ENST00000398774.6:c.2494dup ENSP00000381756.2:p.Glu832GlyfsTer?
ENST00000436759.6:c.2671dup ENSP00000388180.2:p.Glu891GlyfsTer?
ENST00000527096.5:c.2659dup ENSP00000434583.1:p.Glu887GlyfsTer?
NM_000445.4:c.2671dup NP_000436.2:p.Glu891GlyfsTer?
NM_201378.3:c.2548dup NP_958780.1:p.Glu850GlyfsTer?
NM_201379.2:c.2524dup NP_958781.1:p.Glu842GlyfsTer?
NM_201380.3:c.3001dup NP_958782.1:p.Glu1001GlyfsTer?
NM_201381.2:c.2494dup NP_958783.1:p.Glu832GlyfsTer?
NM_201382.3:c.2590dup NP_958784.1:p.Glu864GlyfsTer?
NM_201383.2:c.2602dup NP_958785.1:p.Glu868GlyfsTer?
NM_201384.2:c.2590dup NP_958786.1:p.Glu864GlyfsTer?
XM_005250976.2:c.3016dup XP_005251033.1:p.Glu1006GlyfsTer?
XM_005250978.2:c.2617dup XP_005251035.1:p.Glu873GlyfsTer?
XM_005250979.3:c.2605dup XP_005251036.1:p.Glu869GlyfsTer?
XM_005250980.3:c.2605dup XP_005251037.1:p.Glu869GlyfsTer?
XM_005250981.2:c.2563dup XP_005251038.1:p.Glu855GlyfsTer?
XM_005250982.2:c.2539dup XP_005251039.1:p.Glu847GlyfsTer?
XM_005250983.2:c.2521dup XP_005251040.1:p.Glu841GlyfsTer?
XM_005250984.3:c.2509dup XP_005251041.1:p.Glu837GlyfsTer?
XM_006716588.2:c.2686dup XP_006716651.1:p.Glu896GlyfsTer?
XM_006716589.2:c.2536dup XP_006716652.1:p.Glu846GlyfsTer?
XM_006716590.2:c.2536dup XP_006716653.1:p.Glu846GlyfsTer?
XM_011517130.1:c.2605dup XP_011515432.1:p.Glu869GlyfsTer?
XM_011517131.1:c.2521dup XP_011515433.1:p.Glu841GlyfsTer?
XM_011517132.1:c.2617dup XP_011515434.1:p.Glu873GlyfsTer?
XM_005250976.4:c.3016dup XP_005251033.1:p.Glu1006GlyfsTer?
XM_005250978.3:c.2617dup XP_005251035.1:p.Glu873GlyfsTer?
XM_005250979.4:c.2605dup XP_005251036.1:p.Glu869GlyfsTer?
XM_005250980.4:c.2605dup XP_005251037.1:p.Glu869GlyfsTer?
XM_005250981.3:c.2563dup XP_005251038.1:p.Glu855GlyfsTer?
XM_005250982.4:c.2539dup XP_005251039.1:p.Glu847GlyfsTer?
XM_005250984.5:c.2509dup XP_005251041.1:p.Glu837GlyfsTer?
XM_006716588.3:c.2686dup XP_006716651.1:p.Glu896GlyfsTer?
XM_006716590.3:c.2536dup XP_006716653.1:p.Glu846GlyfsTer?
XM_011517130.2:c.2605dup XP_011515432.1:p.Glu869GlyfsTer?
XM_011517131.2:c.2521dup XP_011515433.1:p.Glu841GlyfsTer?
XM_011517132.2:c.2617dup XP_011515434.1:p.Glu873GlyfsTer?
NM_000445.5:c.2671dup NP_000436.2:p.Glu891GlyfsTer?
NM_201378.4:c.2548dup MANE Plus Clinical NP_958780.1:p.Glu850GlyfsTer?
NM_201379.3:c.2524dup NP_958781.1:p.Glu842GlyfsTer?
NM_201380.4:c.3001dup NP_958782.1:p.Glu1001GlyfsTer?
NM_201381.3:c.2494dup NP_958783.1:p.Glu832GlyfsTer?
NM_201382.4:c.2590dup NP_958784.1:p.Glu864GlyfsTer?
NM_201383.3:c.2602dup NP_958785.1:p.Glu868GlyfsTer?
NM_201384.3:c.2590dup MANE Select NP_958786.1:p.Glu864GlyfsTer?