Canonical Allele Identifier: CA915948719

Gene: PLEC

Linked Data

• ClinVar Variation Id: 656409
• ClinVar RCV Id: RCV000812817
• dbSNP Id: rs1586743291

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916296_143916320del , CM000670.2:g.143916296_143916320del	GRCh38
NC_000008.10:g.144990464_144990488del , CM000670.1:g.144990464_144990488del	GRCh37
NC_000008.9:g.145062452_145062476del	NCBI36
NG_012492.1:g.65426_65450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13633_13657del	ENSP00000437303.2:p.Ser4545ProfsTer7
ENST00000685198.1:c.13552_13576del	ENSP00000510528.1:p.Ser4518ProfsTer7
ENST00000687971.1:c.13219_13243del	ENSP00000510788.1:p.Ser4407ProfsTer7
ENST00000693060.1:c.13432_13456del	ENSP00000510329.1:p.Ser4478ProfsTer7
ENST00000345136.8:c.13501_13525del MANE Select	ENSP00000344848.3:p.Ser4501ProfsTer7
ENST00000527303.2:c.10201_10225del	ENSP00000433982.2:p.Ser3401ProfsTer7
ENST00000322810.8:c.13912_13936del	ENSP00000323856.4:p.Ser4638ProfsTer7
ENST00000345136.7:c.13501_13525del	ENSP00000344848.3:p.Ser4501ProfsTer7
ENST00000354589.7:c.13501_13525del	ENSP00000346602.3:p.Ser4501ProfsTer7
ENST00000354958.6:c.13435_13459del	ENSP00000347044.2:p.Ser4479ProfsTer7
ENST00000356346.7:c.13459_13483del MANE Plus Clinical	ENSP00000348702.3:p.Ser4487ProfsTer7
ENST00000357649.6:c.13513_13537del	ENSP00000350277.2:p.Ser4505ProfsTer7
ENST00000398774.6:c.13405_13429del	ENSP00000381756.2:p.Ser4469ProfsTer7
ENST00000436759.6:c.13582_13606del	ENSP00000388180.2:p.Ser4528ProfsTer7
ENST00000527096.5:c.13570_13594del	ENSP00000434583.1:p.Ser4524ProfsTer7
NM_000445.4:c.13582_13606del	NP_000436.2:p.Ser4528ProfsTer7
NM_201378.3:c.13459_13483del	NP_958780.1:p.Ser4487ProfsTer7
NM_201379.2:c.13435_13459del	NP_958781.1:p.Ser4479ProfsTer7
NM_201380.3:c.13912_13936del	NP_958782.1:p.Ser4638ProfsTer7
NM_201381.2:c.13405_13429del	NP_958783.1:p.Ser4469ProfsTer7
NM_201382.3:c.13501_13525del	NP_958784.1:p.Ser4501ProfsTer7
NM_201383.2:c.13513_13537del	NP_958785.1:p.Ser4505ProfsTer7
NM_201384.2:c.13501_13525del	NP_958786.1:p.Ser4501ProfsTer7
XM_005250976.2:c.13927_13951del	XP_005251033.1:p.Ser4643ProfsTer7
XM_005250978.2:c.13528_13552del	XP_005251035.1:p.Ser4510ProfsTer7
XM_005250979.3:c.13516_13540del	XP_005251036.1:p.Ser4506ProfsTer7
XM_005250980.3:c.13516_13540del	XP_005251037.1:p.Ser4506ProfsTer7
XM_005250981.2:c.13474_13498del	XP_005251038.1:p.Ser4492ProfsTer7
XM_005250982.2:c.13450_13474del	XP_005251039.1:p.Ser4484ProfsTer7
XM_005250983.2:c.13432_13456del	XP_005251040.1:p.Ser4478ProfsTer7
XM_005250984.3:c.13420_13444del	XP_005251041.1:p.Ser4474ProfsTer7
XM_006716588.2:c.13597_13621del	XP_006716651.1:p.Ser4533ProfsTer7
XM_006716589.2:c.13447_13471del	XP_006716652.1:p.Ser4483ProfsTer7
XM_006716590.2:c.13447_13471del	XP_006716653.1:p.Ser4483ProfsTer7
XM_011517130.1:c.13516_13540del	XP_011515432.1:p.Ser4506ProfsTer7
XM_011517131.1:c.13432_13456del	XP_011515433.1:p.Ser4478ProfsTer7
XM_011517132.1:c.10147_10171del	XP_011515434.1:p.Ser3383ProfsTer7
XM_005250976.4:c.13927_13951del	XP_005251033.1:p.Ser4643ProfsTer7
XM_005250978.3:c.13528_13552del	XP_005251035.1:p.Ser4510ProfsTer7
XM_005250979.4:c.13516_13540del	XP_005251036.1:p.Ser4506ProfsTer7
XM_005250980.4:c.13516_13540del	XP_005251037.1:p.Ser4506ProfsTer7
XM_005250981.3:c.13474_13498del	XP_005251038.1:p.Ser4492ProfsTer7
XM_005250982.4:c.13450_13474del	XP_005251039.1:p.Ser4484ProfsTer7
XM_005250984.5:c.13420_13444del	XP_005251041.1:p.Ser4474ProfsTer7
XM_006716588.3:c.13597_13621del	XP_006716651.1:p.Ser4533ProfsTer7
XM_006716590.3:c.13447_13471del	XP_006716653.1:p.Ser4483ProfsTer7
XM_011517130.2:c.13516_13540del	XP_011515432.1:p.Ser4506ProfsTer7
XM_011517131.2:c.13432_13456del	XP_011515433.1:p.Ser4478ProfsTer7
XM_011517132.2:c.10147_10171del	XP_011515434.1:p.Ser3383ProfsTer7
NM_000445.5:c.13582_13606del	NP_000436.2:p.Ser4528ProfsTer7
NM_201378.4:c.13459_13483del MANE Plus Clinical	NP_958780.1:p.Ser4487ProfsTer7
NM_201379.3:c.13435_13459del	NP_958781.1:p.Ser4479ProfsTer7
NM_201380.4:c.13912_13936del	NP_958782.1:p.Ser4638ProfsTer7
NM_201381.3:c.13405_13429del	NP_958783.1:p.Ser4469ProfsTer7
NM_201382.4:c.13501_13525del	NP_958784.1:p.Ser4501ProfsTer7
NM_201383.3:c.13513_13537del	NP_958785.1:p.Ser4505ProfsTer7
NM_201384.3:c.13501_13525del MANE Select	NP_958786.1:p.Ser4501ProfsTer7