Canonical Allele Identifier: CA1120226752

Gene: PLEC

Linked Data

• gnomAD v3: 8-143916463-C-CA
• gnomAD v4: 8-143916463-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916463_143916464insA , CM000670.2:g.143916463_143916464insA	GRCh38
NC_000008.10:g.144990631_144990632insA , CM000670.1:g.144990631_144990632insA	GRCh37
NC_000008.9:g.145062619_145062620insA	NCBI36
NG_012492.1:g.65282_65283insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13489_13490insT	ENSP00000437303.2:p.Ser4497MetfsTer?
ENST00000685198.1:c.13408_13409insT	ENSP00000510528.1:p.Ser4470MetfsTer?
ENST00000687971.1:c.13075_13076insT	ENSP00000510788.1:p.Ser4359MetfsTer?
ENST00000693060.1:c.13288_13289insT	ENSP00000510329.1:p.Ser4430MetfsTer?
ENST00000345136.8:c.13357_13358insT MANE Select	ENSP00000344848.3:p.Ser4453MetfsTer?
ENST00000527303.2:c.10057_10058insT	ENSP00000433982.2:p.Ser3353MetfsTer?
ENST00000322810.8:c.13768_13769insT	ENSP00000323856.4:p.Ser4590MetfsTer?
ENST00000345136.7:c.13357_13358insT	ENSP00000344848.3:p.Ser4453MetfsTer?
ENST00000354589.7:c.13357_13358insT	ENSP00000346602.3:p.Ser4453MetfsTer?
ENST00000354958.6:c.13291_13292insT	ENSP00000347044.2:p.Ser4431MetfsTer?
ENST00000356346.7:c.13315_13316insT MANE Plus Clinical	ENSP00000348702.3:p.Ser4439MetfsTer?
ENST00000357649.6:c.13369_13370insT	ENSP00000350277.2:p.Ser4457MetfsTer?
ENST00000398774.6:c.13261_13262insT	ENSP00000381756.2:p.Ser4421MetfsTer?
ENST00000436759.6:c.13438_13439insT	ENSP00000388180.2:p.Ser4480MetfsTer?
ENST00000527096.5:c.13426_13427insT	ENSP00000434583.1:p.Ser4476MetfsTer?
NM_000445.4:c.13438_13439insT	NP_000436.2:p.Ser4480MetfsTer?
NM_201378.3:c.13315_13316insT	NP_958780.1:p.Ser4439MetfsTer?
NM_201379.2:c.13291_13292insT	NP_958781.1:p.Ser4431MetfsTer?
NM_201380.3:c.13768_13769insT	NP_958782.1:p.Ser4590MetfsTer?
NM_201381.2:c.13261_13262insT	NP_958783.1:p.Ser4421MetfsTer?
NM_201382.3:c.13357_13358insT	NP_958784.1:p.Ser4453MetfsTer?
NM_201383.2:c.13369_13370insT	NP_958785.1:p.Ser4457MetfsTer?
NM_201384.2:c.13357_13358insT	NP_958786.1:p.Ser4453MetfsTer?
XM_005250976.2:c.13783_13784insT	XP_005251033.1:p.Ser4595MetfsTer?
XM_005250978.2:c.13384_13385insT	XP_005251035.1:p.Ser4462MetfsTer?
XM_005250979.3:c.13372_13373insT	XP_005251036.1:p.Ser4458MetfsTer?
XM_005250980.3:c.13372_13373insT	XP_005251037.1:p.Ser4458MetfsTer?
XM_005250981.2:c.13330_13331insT	XP_005251038.1:p.Ser4444MetfsTer?
XM_005250982.2:c.13306_13307insT	XP_005251039.1:p.Ser4436MetfsTer?
XM_005250983.2:c.13288_13289insT	XP_005251040.1:p.Ser4430MetfsTer?
XM_005250984.3:c.13276_13277insT	XP_005251041.1:p.Ser4426MetfsTer?
XM_006716588.2:c.13453_13454insT	XP_006716651.1:p.Ser4485MetfsTer?
XM_006716589.2:c.13303_13304insT	XP_006716652.1:p.Ser4435MetfsTer?
XM_006716590.2:c.13303_13304insT	XP_006716653.1:p.Ser4435MetfsTer?
XM_011517130.1:c.13372_13373insT	XP_011515432.1:p.Ser4458MetfsTer?
XM_011517131.1:c.13288_13289insT	XP_011515433.1:p.Ser4430MetfsTer?
XM_011517132.1:c.10003_10004insT	XP_011515434.1:p.Ser3335MetfsTer?
XM_005250976.4:c.13783_13784insT	XP_005251033.1:p.Ser4595MetfsTer?
XM_005250978.3:c.13384_13385insT	XP_005251035.1:p.Ser4462MetfsTer?
XM_005250979.4:c.13372_13373insT	XP_005251036.1:p.Ser4458MetfsTer?
XM_005250980.4:c.13372_13373insT	XP_005251037.1:p.Ser4458MetfsTer?
XM_005250981.3:c.13330_13331insT	XP_005251038.1:p.Ser4444MetfsTer?
XM_005250982.4:c.13306_13307insT	XP_005251039.1:p.Ser4436MetfsTer?
XM_005250984.5:c.13276_13277insT	XP_005251041.1:p.Ser4426MetfsTer?
XM_006716588.3:c.13453_13454insT	XP_006716651.1:p.Ser4485MetfsTer?
XM_006716590.3:c.13303_13304insT	XP_006716653.1:p.Ser4435MetfsTer?
XM_011517130.2:c.13372_13373insT	XP_011515432.1:p.Ser4458MetfsTer?
XM_011517131.2:c.13288_13289insT	XP_011515433.1:p.Ser4430MetfsTer?
XM_011517132.2:c.10003_10004insT	XP_011515434.1:p.Ser3335MetfsTer?
NM_000445.5:c.13438_13439insT	NP_000436.2:p.Ser4480MetfsTer?
NM_201378.4:c.13315_13316insT MANE Plus Clinical	NP_958780.1:p.Ser4439MetfsTer?
NM_201379.3:c.13291_13292insT	NP_958781.1:p.Ser4431MetfsTer?
NM_201380.4:c.13768_13769insT	NP_958782.1:p.Ser4590MetfsTer?
NM_201381.3:c.13261_13262insT	NP_958783.1:p.Ser4421MetfsTer?
NM_201382.4:c.13357_13358insT	NP_958784.1:p.Ser4453MetfsTer?
NM_201383.3:c.13369_13370insT	NP_958785.1:p.Ser4457MetfsTer?
NM_201384.3:c.13357_13358insT MANE Select	NP_958786.1:p.Ser4453MetfsTer?