Canonical Allele Identifier: CA2840001708
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143930109_143930126del , CM000670.2:g.143930109_143930126del GRCh38
NC_000008.10:g.145004277_145004294del , CM000670.1:g.145004277_145004294del GRCh37
NC_000008.9:g.145076265_145076282del NCBI36
NG_012492.1:g.51620_51637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.2744+18_2744+35del ENSP00000437303.2:n.2744+18_2744+35del
ENST00000685198.1:c.2663+18_2663+35del ENSP00000510528.1:n.2663+18_2663+35del
ENST00000687971.1:c.2330+18_2330+35del ENSP00000510788.1:n.2330+18_2330+35del
ENST00000693060.1:c.2543+18_2543+35del ENSP00000510329.1:n.2543+18_2543+35del
ENST00000345136.8:c.2612+18_2612+35del MANE Select ENSP00000344848.3:n.2612+18_2612+35del
ENST00000527303.2:c.2693+18_2693+35del ENSP00000433982.2:n.2693+18_2693+35del
ENST00000322810.8:c.3023+18_3023+35del ENSP00000323856.4:n.3023+18_3023+35del
ENST00000345136.7:c.2612+18_2612+35del ENSP00000344848.3:n.2612+18_2612+35del
ENST00000354589.7:c.2612+18_2612+35del ENSP00000346602.3:n.2612+18_2612+35del
ENST00000354958.6:c.2546+18_2546+35del ENSP00000347044.2:n.2546+18_2546+35del
ENST00000356346.7:c.2570+18_2570+35del MANE Plus Clinical ENSP00000348702.3:n.2570+18_2570+35del
ENST00000357649.6:c.2624+18_2624+35del ENSP00000350277.2:n.2624+18_2624+35del
ENST00000398774.6:c.2516+18_2516+35del ENSP00000381756.2:n.2516+18_2516+35del
ENST00000436759.6:c.2693+18_2693+35del ENSP00000388180.2:n.2693+18_2693+35del
ENST00000527096.5:c.2681+18_2681+35del ENSP00000434583.1:n.2681+18_2681+35del
NM_000445.4:c.2693+18_2693+35del NP_000436.2:n.2693+18_2693+35del
NM_201378.3:c.2570+18_2570+35del NP_958780.1:n.2570+18_2570+35del
NM_201379.2:c.2546+18_2546+35del NP_958781.1:n.2546+18_2546+35del
NM_201380.3:c.3023+18_3023+35del NP_958782.1:n.3023+18_3023+35del
NM_201381.2:c.2516+18_2516+35del NP_958783.1:n.2516+18_2516+35del
NM_201382.3:c.2612+18_2612+35del NP_958784.1:n.2612+18_2612+35del
NM_201383.2:c.2624+18_2624+35del NP_958785.1:n.2624+18_2624+35del
NM_201384.2:c.2612+18_2612+35del NP_958786.1:n.2612+18_2612+35del
XM_005250976.2:c.3038+18_3038+35del XP_005251033.1:n.3038+18_3038+35del
XM_005250978.2:c.2639+18_2639+35del XP_005251035.1:n.2639+18_2639+35del
XM_005250979.3:c.2627+18_2627+35del XP_005251036.1:n.2627+18_2627+35del
XM_005250980.3:c.2627+18_2627+35del XP_005251037.1:n.2627+18_2627+35del
XM_005250981.2:c.2585+18_2585+35del XP_005251038.1:n.2585+18_2585+35del
XM_005250982.2:c.2561+18_2561+35del XP_005251039.1:n.2561+18_2561+35del
XM_005250983.2:c.2543+18_2543+35del XP_005251040.1:n.2543+18_2543+35del
XM_005250984.3:c.2531+18_2531+35del XP_005251041.1:n.2531+18_2531+35del
XM_006716588.2:c.2708+18_2708+35del XP_006716651.1:n.2708+18_2708+35del
XM_006716589.2:c.2558+18_2558+35del XP_006716652.1:n.2558+18_2558+35del
XM_006716590.2:c.2558+18_2558+35del XP_006716653.1:n.2558+18_2558+35del
XM_011517130.1:c.2627+18_2627+35del XP_011515432.1:n.2627+18_2627+35del
XM_011517131.1:c.2543+18_2543+35del XP_011515433.1:n.2543+18_2543+35del
XM_011517132.1:c.2639+18_2639+35del XP_011515434.1:n.2639+18_2639+35del
XM_005250976.4:c.3038+18_3038+35del XP_005251033.1:n.3038+18_3038+35del
XM_005250978.3:c.2639+18_2639+35del XP_005251035.1:n.2639+18_2639+35del
XM_005250979.4:c.2627+18_2627+35del XP_005251036.1:n.2627+18_2627+35del
XM_005250980.4:c.2627+18_2627+35del XP_005251037.1:n.2627+18_2627+35del
XM_005250981.3:c.2585+18_2585+35del XP_005251038.1:n.2585+18_2585+35del
XM_005250982.4:c.2561+18_2561+35del XP_005251039.1:n.2561+18_2561+35del
XM_005250984.5:c.2531+18_2531+35del XP_005251041.1:n.2531+18_2531+35del
XM_006716588.3:c.2708+18_2708+35del XP_006716651.1:n.2708+18_2708+35del
XM_006716590.3:c.2558+18_2558+35del XP_006716653.1:n.2558+18_2558+35del
XM_011517130.2:c.2627+18_2627+35del XP_011515432.1:n.2627+18_2627+35del
XM_011517131.2:c.2543+18_2543+35del XP_011515433.1:n.2543+18_2543+35del
XM_011517132.2:c.2639+18_2639+35del XP_011515434.1:n.2639+18_2639+35del
NM_000445.5:c.2693+18_2693+35del NP_000436.2:n.2693+18_2693+35del
NM_201378.4:c.2570+18_2570+35del MANE Plus Clinical NP_958780.1:n.2570+18_2570+35del
NM_201379.3:c.2546+18_2546+35del NP_958781.1:n.2546+18_2546+35del
NM_201380.4:c.3023+18_3023+35del NP_958782.1:n.3023+18_3023+35del
NM_201381.3:c.2516+18_2516+35del NP_958783.1:n.2516+18_2516+35del
NM_201382.4:c.2612+18_2612+35del NP_958784.1:n.2612+18_2612+35del
NM_201383.3:c.2624+18_2624+35del NP_958785.1:n.2624+18_2624+35del
NM_201384.3:c.2612+18_2612+35del MANE Select NP_958786.1:n.2612+18_2612+35del