Canonical Allele Identifier: CA2689011276

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916327-C-CCGGGAGCCGGTGCGCGAGCCGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916336_143916359dup , CM000670.2:g.143916336_143916359dup	GRCh38
NC_000008.10:g.144990504_144990527dup , CM000670.1:g.144990504_144990527dup	GRCh37
NC_000008.9:g.145062492_145062515dup	NCBI36
NG_012492.1:g.65395_65418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13602_13625dup	ENSP00000437303.2:p.Arg4542_Ala4543insThrGlySerArgThrGlySerAr...
ENST00000685198.1:c.13521_13544dup	ENSP00000510528.1:p.Arg4515_Ala4516insThrGlySerArgThrGlySerAr...
ENST00000687971.1:c.13188_13211dup	ENSP00000510788.1:p.Arg4404_Ala4405insThrGlySerArgThrGlySerAr...
ENST00000693060.1:c.13401_13424dup	ENSP00000510329.1:p.Arg4475_Ala4476insThrGlySerArgThrGlySerAr...
ENST00000345136.8:c.13470_13493dup MANE Select	ENSP00000344848.3:p.Arg4498_Ala4499insThrGlySerArgThrGlySerAr...
ENST00000527303.2:c.10170_10193dup	ENSP00000433982.2:p.Arg3398_Ala3399insThrGlySerArgThrGlySerAr...
ENST00000322810.8:c.13881_13904dup	ENSP00000323856.4:p.Arg4635_Ala4636insThrGlySerArgThrGlySerAr...
ENST00000345136.7:c.13470_13493dup	ENSP00000344848.3:p.Arg4498_Ala4499insThrGlySerArgThrGlySerAr...
ENST00000354589.7:c.13470_13493dup	ENSP00000346602.3:p.Arg4498_Ala4499insThrGlySerArgThrGlySerAr...
ENST00000354958.6:c.13404_13427dup	ENSP00000347044.2:p.Arg4476_Ala4477insThrGlySerArgThrGlySerAr...
ENST00000356346.7:c.13428_13451dup MANE Plus Clinical	ENSP00000348702.3:p.Arg4484_Ala4485insThrGlySerArgThrGlySerAr...
ENST00000357649.6:c.13482_13505dup	ENSP00000350277.2:p.Arg4502_Ala4503insThrGlySerArgThrGlySerAr...
ENST00000398774.6:c.13374_13397dup	ENSP00000381756.2:p.Arg4466_Ala4467insThrGlySerArgThrGlySerAr...
ENST00000436759.6:c.13551_13574dup	ENSP00000388180.2:p.Arg4525_Ala4526insThrGlySerArgThrGlySerAr...
ENST00000527096.5:c.13539_13562dup	ENSP00000434583.1:p.Arg4521_Ala4522insThrGlySerArgThrGlySerAr...
NM_000445.4:c.13551_13574dup	NP_000436.2:p.Arg4525_Ala4526insThrGlySerArgThrGlySerArg
NM_201378.3:c.13428_13451dup	NP_958780.1:p.Arg4484_Ala4485insThrGlySerArgThrGlySerArg
NM_201379.2:c.13404_13427dup	NP_958781.1:p.Arg4476_Ala4477insThrGlySerArgThrGlySerArg
NM_201380.3:c.13881_13904dup	NP_958782.1:p.Arg4635_Ala4636insThrGlySerArgThrGlySerArg
NM_201381.2:c.13374_13397dup	NP_958783.1:p.Arg4466_Ala4467insThrGlySerArgThrGlySerArg
NM_201382.3:c.13470_13493dup	NP_958784.1:p.Arg4498_Ala4499insThrGlySerArgThrGlySerArg
NM_201383.2:c.13482_13505dup	NP_958785.1:p.Arg4502_Ala4503insThrGlySerArgThrGlySerArg
NM_201384.2:c.13470_13493dup	NP_958786.1:p.Arg4498_Ala4499insThrGlySerArgThrGlySerArg
XM_005250976.2:c.13896_13919dup	XP_005251033.1:p.Arg4640_Ala4641insThrGlySerArgThrGlySerArg
XM_005250978.2:c.13497_13520dup	XP_005251035.1:p.Arg4507_Ala4508insThrGlySerArgThrGlySerArg
XM_005250979.3:c.13485_13508dup	XP_005251036.1:p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg
XM_005250980.3:c.13485_13508dup	XP_005251037.1:p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg
XM_005250981.2:c.13443_13466dup	XP_005251038.1:p.Arg4489_Ala4490insThrGlySerArgThrGlySerArg
XM_005250982.2:c.13419_13442dup	XP_005251039.1:p.Arg4481_Ala4482insThrGlySerArgThrGlySerArg
XM_005250983.2:c.13401_13424dup	XP_005251040.1:p.Arg4475_Ala4476insThrGlySerArgThrGlySerArg
XM_005250984.3:c.13389_13412dup	XP_005251041.1:p.Arg4471_Ala4472insThrGlySerArgThrGlySerArg
XM_006716588.2:c.13566_13589dup	XP_006716651.1:p.Arg4530_Ala4531insThrGlySerArgThrGlySerArg
XM_006716589.2:c.13416_13439dup	XP_006716652.1:p.Arg4480_Ala4481insThrGlySerArgThrGlySerArg
XM_006716590.2:c.13416_13439dup	XP_006716653.1:p.Arg4480_Ala4481insThrGlySerArgThrGlySerArg
XM_011517130.1:c.13485_13508dup	XP_011515432.1:p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg
XM_011517131.1:c.13401_13424dup	XP_011515433.1:p.Arg4475_Ala4476insThrGlySerArgThrGlySerArg
XM_011517132.1:c.10116_10139dup	XP_011515434.1:p.Arg3380_Ala3381insThrGlySerArgThrGlySerArg
XM_005250976.4:c.13896_13919dup	XP_005251033.1:p.Arg4640_Ala4641insThrGlySerArgThrGlySerArg
XM_005250978.3:c.13497_13520dup	XP_005251035.1:p.Arg4507_Ala4508insThrGlySerArgThrGlySerArg
XM_005250979.4:c.13485_13508dup	XP_005251036.1:p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg
XM_005250980.4:c.13485_13508dup	XP_005251037.1:p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg
XM_005250981.3:c.13443_13466dup	XP_005251038.1:p.Arg4489_Ala4490insThrGlySerArgThrGlySerArg
XM_005250982.4:c.13419_13442dup	XP_005251039.1:p.Arg4481_Ala4482insThrGlySerArgThrGlySerArg
XM_005250984.5:c.13389_13412dup	XP_005251041.1:p.Arg4471_Ala4472insThrGlySerArgThrGlySerArg
XM_006716588.3:c.13566_13589dup	XP_006716651.1:p.Arg4530_Ala4531insThrGlySerArgThrGlySerArg
XM_006716590.3:c.13416_13439dup	XP_006716653.1:p.Arg4480_Ala4481insThrGlySerArgThrGlySerArg
XM_011517130.2:c.13485_13508dup	XP_011515432.1:p.Arg4503_Ala4504insThrGlySerArgThrGlySerArg
XM_011517131.2:c.13401_13424dup	XP_011515433.1:p.Arg4475_Ala4476insThrGlySerArgThrGlySerArg
XM_011517132.2:c.10116_10139dup	XP_011515434.1:p.Arg3380_Ala3381insThrGlySerArgThrGlySerArg
NM_000445.5:c.13551_13574dup	NP_000436.2:p.Arg4525_Ala4526insThrGlySerArgThrGlySerArg
NM_201378.4:c.13428_13451dup MANE Plus Clinical	NP_958780.1:p.Arg4484_Ala4485insThrGlySerArgThrGlySerArg
NM_201379.3:c.13404_13427dup	NP_958781.1:p.Arg4476_Ala4477insThrGlySerArgThrGlySerArg
NM_201380.4:c.13881_13904dup	NP_958782.1:p.Arg4635_Ala4636insThrGlySerArgThrGlySerArg
NM_201381.3:c.13374_13397dup	NP_958783.1:p.Arg4466_Ala4467insThrGlySerArgThrGlySerArg
NM_201382.4:c.13470_13493dup	NP_958784.1:p.Arg4498_Ala4499insThrGlySerArgThrGlySerArg
NM_201383.3:c.13482_13505dup	NP_958785.1:p.Arg4502_Ala4503insThrGlySerArgThrGlySerArg
NM_201384.3:c.13470_13493dup MANE Select	NP_958786.1:p.Arg4498_Ala4499insThrGlySerArgThrGlySerArg