Canonical Allele Identifier: CA2689011274

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916314-GGCGGGAGCCGGCCCGGGAGCCGGTGCGCGAGCCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916324_143916359del , CM000670.2:g.143916324_143916359del	GRCh38
NC_000008.10:g.144990492_144990527del , CM000670.1:g.144990492_144990527del	GRCh37
NC_000008.9:g.145062480_145062515del	NCBI36
NG_012492.1:g.65396_65431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13603_13638del	ENSP00000437303.2:p.Thr4535_Arg4546del
ENST00000685198.1:c.13522_13557del	ENSP00000510528.1:p.Thr4508_Arg4519del
ENST00000687971.1:c.13189_13224del	ENSP00000510788.1:p.Thr4397_Arg4408del
ENST00000693060.1:c.13402_13437del	ENSP00000510329.1:p.Thr4468_Arg4479del
ENST00000345136.8:c.13471_13506del MANE Select	ENSP00000344848.3:p.Thr4491_Arg4502del
ENST00000527303.2:c.10171_10206del	ENSP00000433982.2:p.Thr3391_Arg3402del
ENST00000322810.8:c.13882_13917del	ENSP00000323856.4:p.Thr4628_Arg4639del
ENST00000345136.7:c.13471_13506del	ENSP00000344848.3:p.Thr4491_Arg4502del
ENST00000354589.7:c.13471_13506del	ENSP00000346602.3:p.Thr4491_Arg4502del
ENST00000354958.6:c.13405_13440del	ENSP00000347044.2:p.Thr4469_Arg4480del
ENST00000356346.7:c.13429_13464del MANE Plus Clinical	ENSP00000348702.3:p.Thr4477_Arg4488del
ENST00000357649.6:c.13483_13518del	ENSP00000350277.2:p.Thr4495_Arg4506del
ENST00000398774.6:c.13375_13410del	ENSP00000381756.2:p.Thr4459_Arg4470del
ENST00000436759.6:c.13552_13587del	ENSP00000388180.2:p.Thr4518_Arg4529del
ENST00000527096.5:c.13540_13575del	ENSP00000434583.1:p.Thr4514_Arg4525del
NM_000445.4:c.13552_13587del	NP_000436.2:p.Thr4518_Arg4529del
NM_201378.3:c.13429_13464del	NP_958780.1:p.Thr4477_Arg4488del
NM_201379.2:c.13405_13440del	NP_958781.1:p.Thr4469_Arg4480del
NM_201380.3:c.13882_13917del	NP_958782.1:p.Thr4628_Arg4639del
NM_201381.2:c.13375_13410del	NP_958783.1:p.Thr4459_Arg4470del
NM_201382.3:c.13471_13506del	NP_958784.1:p.Thr4491_Arg4502del
NM_201383.2:c.13483_13518del	NP_958785.1:p.Thr4495_Arg4506del
NM_201384.2:c.13471_13506del	NP_958786.1:p.Thr4491_Arg4502del
XM_005250976.2:c.13897_13932del	XP_005251033.1:p.Thr4633_Arg4644del
XM_005250978.2:c.13498_13533del	XP_005251035.1:p.Thr4500_Arg4511del
XM_005250979.3:c.13486_13521del	XP_005251036.1:p.Thr4496_Arg4507del
XM_005250980.3:c.13486_13521del	XP_005251037.1:p.Thr4496_Arg4507del
XM_005250981.2:c.13444_13479del	XP_005251038.1:p.Thr4482_Arg4493del
XM_005250982.2:c.13420_13455del	XP_005251039.1:p.Thr4474_Arg4485del
XM_005250983.2:c.13402_13437del	XP_005251040.1:p.Thr4468_Arg4479del
XM_005250984.3:c.13390_13425del	XP_005251041.1:p.Thr4464_Arg4475del
XM_006716588.2:c.13567_13602del	XP_006716651.1:p.Thr4523_Arg4534del
XM_006716589.2:c.13417_13452del	XP_006716652.1:p.Thr4473_Arg4484del
XM_006716590.2:c.13417_13452del	XP_006716653.1:p.Thr4473_Arg4484del
XM_011517130.1:c.13486_13521del	XP_011515432.1:p.Thr4496_Arg4507del
XM_011517131.1:c.13402_13437del	XP_011515433.1:p.Thr4468_Arg4479del
XM_011517132.1:c.10117_10152del	XP_011515434.1:p.Thr3373_Arg3384del
XM_005250976.4:c.13897_13932del	XP_005251033.1:p.Thr4633_Arg4644del
XM_005250978.3:c.13498_13533del	XP_005251035.1:p.Thr4500_Arg4511del
XM_005250979.4:c.13486_13521del	XP_005251036.1:p.Thr4496_Arg4507del
XM_005250980.4:c.13486_13521del	XP_005251037.1:p.Thr4496_Arg4507del
XM_005250981.3:c.13444_13479del	XP_005251038.1:p.Thr4482_Arg4493del
XM_005250982.4:c.13420_13455del	XP_005251039.1:p.Thr4474_Arg4485del
XM_005250984.5:c.13390_13425del	XP_005251041.1:p.Thr4464_Arg4475del
XM_006716588.3:c.13567_13602del	XP_006716651.1:p.Thr4523_Arg4534del
XM_006716590.3:c.13417_13452del	XP_006716653.1:p.Thr4473_Arg4484del
XM_011517130.2:c.13486_13521del	XP_011515432.1:p.Thr4496_Arg4507del
XM_011517131.2:c.13402_13437del	XP_011515433.1:p.Thr4468_Arg4479del
XM_011517132.2:c.10117_10152del	XP_011515434.1:p.Thr3373_Arg3384del
NM_000445.5:c.13552_13587del	NP_000436.2:p.Thr4518_Arg4529del
NM_201378.4:c.13429_13464del MANE Plus Clinical	NP_958780.1:p.Thr4477_Arg4488del
NM_201379.3:c.13405_13440del	NP_958781.1:p.Thr4469_Arg4480del
NM_201380.4:c.13882_13917del	NP_958782.1:p.Thr4628_Arg4639del
NM_201381.3:c.13375_13410del	NP_958783.1:p.Thr4459_Arg4470del
NM_201382.4:c.13471_13506del	NP_958784.1:p.Thr4491_Arg4502del
NM_201383.3:c.13483_13518del	NP_958785.1:p.Thr4495_Arg4506del
NM_201384.3:c.13471_13506del MANE Select	NP_958786.1:p.Thr4491_Arg4502del