Canonical Allele Identifier: CA848820080

Gene: PLEC

Linked Data

• dbSNP Id: rs1234855589
• gnomAD v3: 8-143916354-GGAGCCAGCGGTA-G
• gnomAD v4: 8-143916354-GGAGCCAGCGGTA-G
• MyVariant Identifiers: chr8:g.143916355_143916366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916360_143916371del , CM000670.2:g.143916360_143916371del	GRCh38
NC_000008.10:g.144990528_144990539del , CM000670.1:g.144990528_144990539del	GRCh37
NC_000008.9:g.145062516_145062527del	NCBI36
NG_012492.1:g.65380_65391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13587_13598del	ENSP00000437303.2:p.Thr4530_Ser4533del
ENST00000685198.1:c.13506_13517del	ENSP00000510528.1:p.Thr4503_Ser4506del
ENST00000687971.1:c.13173_13184del	ENSP00000510788.1:p.Thr4392_Ser4395del
ENST00000693060.1:c.13386_13397del	ENSP00000510329.1:p.Thr4463_Ser4466del
ENST00000345136.8:c.13455_13466del MANE Select	ENSP00000344848.3:p.Thr4486_Ser4489del
ENST00000527303.2:c.10155_10166del	ENSP00000433982.2:p.Thr3386_Ser3389del
ENST00000322810.8:c.13866_13877del	ENSP00000323856.4:p.Thr4623_Ser4626del
ENST00000345136.7:c.13455_13466del	ENSP00000344848.3:p.Thr4486_Ser4489del
ENST00000354589.7:c.13455_13466del	ENSP00000346602.3:p.Thr4486_Ser4489del
ENST00000354958.6:c.13389_13400del	ENSP00000347044.2:p.Thr4464_Ser4467del
ENST00000356346.7:c.13413_13424del MANE Plus Clinical	ENSP00000348702.3:p.Thr4472_Ser4475del
ENST00000357649.6:c.13467_13478del	ENSP00000350277.2:p.Thr4490_Ser4493del
ENST00000398774.6:c.13359_13370del	ENSP00000381756.2:p.Thr4454_Ser4457del
ENST00000436759.6:c.13536_13547del	ENSP00000388180.2:p.Thr4513_Ser4516del
ENST00000527096.5:c.13524_13535del	ENSP00000434583.1:p.Thr4509_Ser4512del
NM_000445.4:c.13536_13547del	NP_000436.2:p.Thr4513_Ser4516del
NM_201378.3:c.13413_13424del	NP_958780.1:p.Thr4472_Ser4475del
NM_201379.2:c.13389_13400del	NP_958781.1:p.Thr4464_Ser4467del
NM_201380.3:c.13866_13877del	NP_958782.1:p.Thr4623_Ser4626del
NM_201381.2:c.13359_13370del	NP_958783.1:p.Thr4454_Ser4457del
NM_201382.3:c.13455_13466del	NP_958784.1:p.Thr4486_Ser4489del
NM_201383.2:c.13467_13478del	NP_958785.1:p.Thr4490_Ser4493del
NM_201384.2:c.13455_13466del	NP_958786.1:p.Thr4486_Ser4489del
XM_005250976.2:c.13881_13892del	XP_005251033.1:p.Thr4628_Ser4631del
XM_005250978.2:c.13482_13493del	XP_005251035.1:p.Thr4495_Ser4498del
XM_005250979.3:c.13470_13481del	XP_005251036.1:p.Thr4491_Ser4494del
XM_005250980.3:c.13470_13481del	XP_005251037.1:p.Thr4491_Ser4494del
XM_005250981.2:c.13428_13439del	XP_005251038.1:p.Thr4477_Ser4480del
XM_005250982.2:c.13404_13415del	XP_005251039.1:p.Thr4469_Ser4472del
XM_005250983.2:c.13386_13397del	XP_005251040.1:p.Thr4463_Ser4466del
XM_005250984.3:c.13374_13385del	XP_005251041.1:p.Thr4459_Ser4462del
XM_006716588.2:c.13551_13562del	XP_006716651.1:p.Thr4518_Ser4521del
XM_006716589.2:c.13401_13412del	XP_006716652.1:p.Thr4468_Ser4471del
XM_006716590.2:c.13401_13412del	XP_006716653.1:p.Thr4468_Ser4471del
XM_011517130.1:c.13470_13481del	XP_011515432.1:p.Thr4491_Ser4494del
XM_011517131.1:c.13386_13397del	XP_011515433.1:p.Thr4463_Ser4466del
XM_011517132.1:c.10101_10112del	XP_011515434.1:p.Thr3368_Ser3371del
XM_005250976.4:c.13881_13892del	XP_005251033.1:p.Thr4628_Ser4631del
XM_005250978.3:c.13482_13493del	XP_005251035.1:p.Thr4495_Ser4498del
XM_005250979.4:c.13470_13481del	XP_005251036.1:p.Thr4491_Ser4494del
XM_005250980.4:c.13470_13481del	XP_005251037.1:p.Thr4491_Ser4494del
XM_005250981.3:c.13428_13439del	XP_005251038.1:p.Thr4477_Ser4480del
XM_005250982.4:c.13404_13415del	XP_005251039.1:p.Thr4469_Ser4472del
XM_005250984.5:c.13374_13385del	XP_005251041.1:p.Thr4459_Ser4462del
XM_006716588.3:c.13551_13562del	XP_006716651.1:p.Thr4518_Ser4521del
XM_006716590.3:c.13401_13412del	XP_006716653.1:p.Thr4468_Ser4471del
XM_011517130.2:c.13470_13481del	XP_011515432.1:p.Thr4491_Ser4494del
XM_011517131.2:c.13386_13397del	XP_011515433.1:p.Thr4463_Ser4466del
XM_011517132.2:c.10101_10112del	XP_011515434.1:p.Thr3368_Ser3371del
NM_000445.5:c.13536_13547del	NP_000436.2:p.Thr4513_Ser4516del
NM_201378.4:c.13413_13424del MANE Plus Clinical	NP_958780.1:p.Thr4472_Ser4475del
NM_201379.3:c.13389_13400del	NP_958781.1:p.Thr4464_Ser4467del
NM_201380.4:c.13866_13877del	NP_958782.1:p.Thr4623_Ser4626del
NM_201381.3:c.13359_13370del	NP_958783.1:p.Thr4454_Ser4457del
NM_201382.4:c.13455_13466del	NP_958784.1:p.Thr4486_Ser4489del
NM_201383.3:c.13467_13478del	NP_958785.1:p.Thr4490_Ser4493del
NM_201384.3:c.13455_13466del MANE Select	NP_958786.1:p.Thr4486_Ser4489del