Canonical Allele Identifier: CA1826041933
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143916295_143916320delinsGTGGCGTCAAAGCTGCCGCGGCGGGA , CM000670.2:g.143916295_143916320delinsGTGGCGTCAAAGCTGCCGCGGCGGGA GRCh38
NC_000008.10:g.144990463_144990488delinsGTGGCGTCAAAGCTGCCGCGGCGGGA , CM000670.1:g.144990463_144990488delinsGTGGCGTCAAAGCTGCCGCGGCGGGA GRCh37
NC_000008.9:g.145062451_145062476delinsGTGGCGTCAAAGCTGCCGCGGCGGGA NCBI36
NG_012492.1:g.65426_65451delinsTCCCGCCGCGGCAGCTTTGACGCCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.13633_13658delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000437303.2:p.Ser4545=
ENST00000685198.1:c.13552_13577delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000510528.1:p.Ser4518=
ENST00000687971.1:c.13219_13244delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000510788.1:p.Ser4407=
ENST00000693060.1:c.13432_13457delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000510329.1:p.Ser4478=
ENST00000345136.8:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC MANE Select ENSP00000344848.3:p.Ser4501=
ENST00000527303.2:c.10201_10226delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000433982.2:p.Ser3401=
ENST00000322810.8:c.13912_13937delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000323856.4:p.Ser4638=
ENST00000345136.7:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000344848.3:p.Ser4501=
ENST00000354589.7:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000346602.3:p.Ser4501=
ENST00000354958.6:c.13435_13460delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000347044.2:p.Ser4479=
ENST00000356346.7:c.13459_13484delinsTCCCGCCGCGGCAGCTTTGACGCCAC MANE Plus Clinical ENSP00000348702.3:p.Ser4487=
ENST00000357649.6:c.13513_13538delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000350277.2:p.Ser4505=
ENST00000398774.6:c.13405_13430delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000381756.2:p.Ser4469=
ENST00000436759.6:c.13582_13607delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000388180.2:p.Ser4528=
ENST00000527096.5:c.13570_13595delinsTCCCGCCGCGGCAGCTTTGACGCCAC ENSP00000434583.1:p.Ser4524=
NM_000445.4:c.13582_13607delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_000436.2:p.Ser4528=
NM_201378.3:c.13459_13484delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958780.1:p.Ser4487=
NM_201379.2:c.13435_13460delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958781.1:p.Ser4479=
NM_201380.3:c.13912_13937delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958782.1:p.Ser4638=
NM_201381.2:c.13405_13430delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958783.1:p.Ser4469=
NM_201382.3:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958784.1:p.Ser4501=
NM_201383.2:c.13513_13538delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958785.1:p.Ser4505=
NM_201384.2:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958786.1:p.Ser4501=
XM_005250976.2:c.13927_13952delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251033.1:p.Ser4643=
XM_005250978.2:c.13528_13553delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251035.1:p.Ser4510=
XM_005250979.3:c.13516_13541delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251036.1:p.Ser4506=
XM_005250980.3:c.13516_13541delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251037.1:p.Ser4506=
XM_005250981.2:c.13474_13499delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251038.1:p.Ser4492=
XM_005250982.2:c.13450_13475delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251039.1:p.Ser4484=
XM_005250983.2:c.13432_13457delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251040.1:p.Ser4478=
XM_005250984.3:c.13420_13445delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251041.1:p.Ser4474=
XM_006716588.2:c.13597_13622delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_006716651.1:p.Ser4533=
XM_006716589.2:c.13447_13472delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_006716652.1:p.Ser4483=
XM_006716590.2:c.13447_13472delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_006716653.1:p.Ser4483=
XM_011517130.1:c.13516_13541delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_011515432.1:p.Ser4506=
XM_011517131.1:c.13432_13457delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_011515433.1:p.Ser4478=
XM_011517132.1:c.10147_10172delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_011515434.1:p.Ser3383=
XM_005250976.4:c.13927_13952delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251033.1:p.Ser4643=
XM_005250978.3:c.13528_13553delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251035.1:p.Ser4510=
XM_005250979.4:c.13516_13541delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251036.1:p.Ser4506=
XM_005250980.4:c.13516_13541delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251037.1:p.Ser4506=
XM_005250981.3:c.13474_13499delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251038.1:p.Ser4492=
XM_005250982.4:c.13450_13475delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251039.1:p.Ser4484=
XM_005250984.5:c.13420_13445delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_005251041.1:p.Ser4474=
XM_006716588.3:c.13597_13622delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_006716651.1:p.Ser4533=
XM_006716590.3:c.13447_13472delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_006716653.1:p.Ser4483=
XM_011517130.2:c.13516_13541delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_011515432.1:p.Ser4506=
XM_011517131.2:c.13432_13457delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_011515433.1:p.Ser4478=
XM_011517132.2:c.10147_10172delinsTCCCGCCGCGGCAGCTTTGACGCCAC XP_011515434.1:p.Ser3383=
NM_000445.5:c.13582_13607delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_000436.2:p.Ser4528=
NM_201378.4:c.13459_13484delinsTCCCGCCGCGGCAGCTTTGACGCCAC MANE Plus Clinical NP_958780.1:p.Ser4487=
NM_201379.3:c.13435_13460delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958781.1:p.Ser4479=
NM_201380.4:c.13912_13937delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958782.1:p.Ser4638=
NM_201381.3:c.13405_13430delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958783.1:p.Ser4469=
NM_201382.4:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958784.1:p.Ser4501=
NM_201383.3:c.13513_13538delinsTCCCGCCGCGGCAGCTTTGACGCCAC NP_958785.1:p.Ser4505=
NM_201384.3:c.13501_13526delinsTCCCGCCGCGGCAGCTTTGACGCCAC MANE Select NP_958786.1:p.Ser4501=