Canonical Allele Identifier: CA1826036924

Gene: PLEC

Linked Data

• dbSNP Id: rs1820517739
• gnomAD v4: 8-143916327-CCGGGAGCCGGTGCGCGAGCCGGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916336_143916359del , CM000670.2:g.143916336_143916359del	GRCh38
NC_000008.10:g.144990504_144990527del , CM000670.1:g.144990504_144990527del	GRCh37
NC_000008.9:g.145062492_145062515del	NCBI36
NG_012492.1:g.65395_65418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13602_13625del	ENSP00000437303.2:p.Thr4535_Arg4542del
ENST00000685198.1:c.13521_13544del	ENSP00000510528.1:p.Thr4508_Arg4515del
ENST00000687971.1:c.13188_13211del	ENSP00000510788.1:p.Thr4397_Arg4404del
ENST00000693060.1:c.13401_13424del	ENSP00000510329.1:p.Thr4468_Arg4475del
ENST00000345136.8:c.13470_13493del MANE Select	ENSP00000344848.3:p.Thr4491_Arg4498del
ENST00000527303.2:c.10170_10193del	ENSP00000433982.2:p.Thr3391_Arg3398del
ENST00000322810.8:c.13881_13904del	ENSP00000323856.4:p.Thr4628_Arg4635del
ENST00000345136.7:c.13470_13493del	ENSP00000344848.3:p.Thr4491_Arg4498del
ENST00000354589.7:c.13470_13493del	ENSP00000346602.3:p.Thr4491_Arg4498del
ENST00000354958.6:c.13404_13427del	ENSP00000347044.2:p.Thr4469_Arg4476del
ENST00000356346.7:c.13428_13451del MANE Plus Clinical	ENSP00000348702.3:p.Thr4477_Arg4484del
ENST00000357649.6:c.13482_13505del	ENSP00000350277.2:p.Thr4495_Arg4502del
ENST00000398774.6:c.13374_13397del	ENSP00000381756.2:p.Thr4459_Arg4466del
ENST00000436759.6:c.13551_13574del	ENSP00000388180.2:p.Thr4518_Arg4525del
ENST00000527096.5:c.13539_13562del	ENSP00000434583.1:p.Thr4514_Arg4521del
NM_000445.4:c.13551_13574del	NP_000436.2:p.Thr4518_Arg4525del
NM_201378.3:c.13428_13451del	NP_958780.1:p.Thr4477_Arg4484del
NM_201379.2:c.13404_13427del	NP_958781.1:p.Thr4469_Arg4476del
NM_201380.3:c.13881_13904del	NP_958782.1:p.Thr4628_Arg4635del
NM_201381.2:c.13374_13397del	NP_958783.1:p.Thr4459_Arg4466del
NM_201382.3:c.13470_13493del	NP_958784.1:p.Thr4491_Arg4498del
NM_201383.2:c.13482_13505del	NP_958785.1:p.Thr4495_Arg4502del
NM_201384.2:c.13470_13493del	NP_958786.1:p.Thr4491_Arg4498del
XM_005250976.2:c.13896_13919del	XP_005251033.1:p.Thr4633_Arg4640del
XM_005250978.2:c.13497_13520del	XP_005251035.1:p.Thr4500_Arg4507del
XM_005250979.3:c.13485_13508del	XP_005251036.1:p.Thr4496_Arg4503del
XM_005250980.3:c.13485_13508del	XP_005251037.1:p.Thr4496_Arg4503del
XM_005250981.2:c.13443_13466del	XP_005251038.1:p.Thr4482_Arg4489del
XM_005250982.2:c.13419_13442del	XP_005251039.1:p.Thr4474_Arg4481del
XM_005250983.2:c.13401_13424del	XP_005251040.1:p.Thr4468_Arg4475del
XM_005250984.3:c.13389_13412del	XP_005251041.1:p.Thr4464_Arg4471del
XM_006716588.2:c.13566_13589del	XP_006716651.1:p.Thr4523_Arg4530del
XM_006716589.2:c.13416_13439del	XP_006716652.1:p.Thr4473_Arg4480del
XM_006716590.2:c.13416_13439del	XP_006716653.1:p.Thr4473_Arg4480del
XM_011517130.1:c.13485_13508del	XP_011515432.1:p.Thr4496_Arg4503del
XM_011517131.1:c.13401_13424del	XP_011515433.1:p.Thr4468_Arg4475del
XM_011517132.1:c.10116_10139del	XP_011515434.1:p.Thr3373_Arg3380del
XM_005250976.4:c.13896_13919del	XP_005251033.1:p.Thr4633_Arg4640del
XM_005250978.3:c.13497_13520del	XP_005251035.1:p.Thr4500_Arg4507del
XM_005250979.4:c.13485_13508del	XP_005251036.1:p.Thr4496_Arg4503del
XM_005250980.4:c.13485_13508del	XP_005251037.1:p.Thr4496_Arg4503del
XM_005250981.3:c.13443_13466del	XP_005251038.1:p.Thr4482_Arg4489del
XM_005250982.4:c.13419_13442del	XP_005251039.1:p.Thr4474_Arg4481del
XM_005250984.5:c.13389_13412del	XP_005251041.1:p.Thr4464_Arg4471del
XM_006716588.3:c.13566_13589del	XP_006716651.1:p.Thr4523_Arg4530del
XM_006716590.3:c.13416_13439del	XP_006716653.1:p.Thr4473_Arg4480del
XM_011517130.2:c.13485_13508del	XP_011515432.1:p.Thr4496_Arg4503del
XM_011517131.2:c.13401_13424del	XP_011515433.1:p.Thr4468_Arg4475del
XM_011517132.2:c.10116_10139del	XP_011515434.1:p.Thr3373_Arg3380del
NM_000445.5:c.13551_13574del	NP_000436.2:p.Thr4518_Arg4525del
NM_201378.4:c.13428_13451del MANE Plus Clinical	NP_958780.1:p.Thr4477_Arg4484del
NM_201379.3:c.13404_13427del	NP_958781.1:p.Thr4469_Arg4476del
NM_201380.4:c.13881_13904del	NP_958782.1:p.Thr4628_Arg4635del
NM_201381.3:c.13374_13397del	NP_958783.1:p.Thr4459_Arg4466del
NM_201382.4:c.13470_13493del	NP_958784.1:p.Thr4491_Arg4498del
NM_201383.3:c.13482_13505del	NP_958785.1:p.Thr4495_Arg4502del
NM_201384.3:c.13470_13493del MANE Select	NP_958786.1:p.Thr4491_Arg4498del