Canonical Allele Identifier: CA2580078728
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 2019357
ClinVar RCV Id: RCV002871046

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143922662_143922663delinsTA , CM000670.2:g.143922662_143922663delinsTA GRCh38
NC_000008.10:g.144996830_144996831delinsTA , CM000670.1:g.144996830_144996831delinsTA GRCh37
NC_000008.9:g.145068818_145068819delinsTA NCBI36
NG_012492.1:g.59083_59084delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.7398_7399delinsTA ENSP00000437303.2:p.Ala2467Thr
ENST00000685198.1:c.7317_7318delinsTA ENSP00000510528.1:p.Ala2440Thr
ENST00000687971.1:c.6984_6985delinsTA ENSP00000510788.1:p.Ala2329Thr
ENST00000693060.1:c.7197_7198delinsTA ENSP00000510329.1:p.Ala2400Thr
ENST00000345136.8:c.7266_7267delinsTA MANE Select ENSP00000344848.3:p.Ala2423Thr
ENST00000527303.2:c.4126-268_4126-267delinsTA ENSP00000433982.2:n.4126-268_4126-267delinsTA
ENST00000322810.8:c.7677_7678delinsTA ENSP00000323856.4:p.Ala2560Thr
ENST00000345136.7:c.7266_7267delinsTA ENSP00000344848.3:p.Ala2423Thr
ENST00000354589.7:c.7266_7267delinsTA ENSP00000346602.3:p.Ala2423Thr
ENST00000354958.6:c.7200_7201delinsTA ENSP00000347044.2:p.Ala2401Thr
ENST00000356346.7:c.7224_7225delinsTA MANE Plus Clinical ENSP00000348702.3:p.Ala2409Thr
ENST00000357649.6:c.7278_7279delinsTA ENSP00000350277.2:p.Ala2427Thr
ENST00000398774.6:c.7170_7171delinsTA ENSP00000381756.2:p.Ala2391Thr
ENST00000436759.6:c.7347_7348delinsTA ENSP00000388180.2:p.Ala2450Thr
ENST00000527096.5:c.7335_7336delinsTA ENSP00000434583.1:p.Ala2446Thr
ENST00000527303.1:c.135-268_135-267delinsTA
NM_000445.4:c.7347_7348delinsTA NP_000436.2:p.Ala2450Thr
NM_201378.3:c.7224_7225delinsTA NP_958780.1:p.Ala2409Thr
NM_201379.2:c.7200_7201delinsTA NP_958781.1:p.Ala2401Thr
NM_201380.3:c.7677_7678delinsTA NP_958782.1:p.Ala2560Thr
NM_201381.2:c.7170_7171delinsTA NP_958783.1:p.Ala2391Thr
NM_201382.3:c.7266_7267delinsTA NP_958784.1:p.Ala2423Thr
NM_201383.2:c.7278_7279delinsTA NP_958785.1:p.Ala2427Thr
NM_201384.2:c.7266_7267delinsTA NP_958786.1:p.Ala2423Thr
XM_005250976.2:c.7692_7693delinsTA XP_005251033.1:p.Ala2565Thr
XM_005250978.2:c.7293_7294delinsTA XP_005251035.1:p.Ala2432Thr
XM_005250979.3:c.7281_7282delinsTA XP_005251036.1:p.Ala2428Thr
XM_005250980.3:c.7281_7282delinsTA XP_005251037.1:p.Ala2428Thr
XM_005250981.2:c.7239_7240delinsTA XP_005251038.1:p.Ala2414Thr
XM_005250982.2:c.7215_7216delinsTA XP_005251039.1:p.Ala2406Thr
XM_005250983.2:c.7197_7198delinsTA XP_005251040.1:p.Ala2400Thr
XM_005250984.3:c.7185_7186delinsTA XP_005251041.1:p.Ala2396Thr
XM_006716588.2:c.7362_7363delinsTA XP_006716651.1:p.Ala2455Thr
XM_006716589.2:c.7212_7213delinsTA XP_006716652.1:p.Ala2405Thr
XM_006716590.2:c.7212_7213delinsTA XP_006716653.1:p.Ala2405Thr
XM_011517130.1:c.7281_7282delinsTA XP_011515432.1:p.Ala2428Thr
XM_011517131.1:c.7197_7198delinsTA XP_011515433.1:p.Ala2400Thr
XM_011517132.1:c.4072-268_4072-267delinsTA XP_011515434.1:n.4072-268_4072-267delinsTA
XM_005250976.4:c.7692_7693delinsTA XP_005251033.1:p.Ala2565Thr
XM_005250978.3:c.7293_7294delinsTA XP_005251035.1:p.Ala2432Thr
XM_005250979.4:c.7281_7282delinsTA XP_005251036.1:p.Ala2428Thr
XM_005250980.4:c.7281_7282delinsTA XP_005251037.1:p.Ala2428Thr
XM_005250981.3:c.7239_7240delinsTA XP_005251038.1:p.Ala2414Thr
XM_005250982.4:c.7215_7216delinsTA XP_005251039.1:p.Ala2406Thr
XM_005250984.5:c.7185_7186delinsTA XP_005251041.1:p.Ala2396Thr
XM_006716588.3:c.7362_7363delinsTA XP_006716651.1:p.Ala2455Thr
XM_006716590.3:c.7212_7213delinsTA XP_006716653.1:p.Ala2405Thr
XM_011517130.2:c.7281_7282delinsTA XP_011515432.1:p.Ala2428Thr
XM_011517131.2:c.7197_7198delinsTA XP_011515433.1:p.Ala2400Thr
XM_011517132.2:c.4072-268_4072-267delinsTA XP_011515434.1:n.4072-268_4072-267delinsTA
NM_000445.5:c.7347_7348delinsTA NP_000436.2:p.Ala2450Thr
NM_201378.4:c.7224_7225delinsTA MANE Plus Clinical NP_958780.1:p.Ala2409Thr
NM_201379.3:c.7200_7201delinsTA NP_958781.1:p.Ala2401Thr
NM_201380.4:c.7677_7678delinsTA NP_958782.1:p.Ala2560Thr
NM_201381.3:c.7170_7171delinsTA NP_958783.1:p.Ala2391Thr
NM_201382.4:c.7266_7267delinsTA NP_958784.1:p.Ala2423Thr
NM_201383.3:c.7278_7279delinsTA NP_958785.1:p.Ala2427Thr
NM_201384.3:c.7266_7267delinsTA MANE Select NP_958786.1:p.Ala2423Thr