Canonical Allele Identifier: CA2605510060

Gene: PLEC

Linked Data

• gnomAD v3: 8-143916447-GCCCTCCTCCACC-G
• gnomAD v4: 8-143916447-GCCCTCCTCCACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916448_143916459del , CM000670.2:g.143916448_143916459del	GRCh38
NC_000008.10:g.144990616_144990627del , CM000670.1:g.144990616_144990627del	GRCh37
NC_000008.9:g.145062604_145062615del	NCBI36
NG_012492.1:g.65287_65298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13494_13505del	ENSP00000437303.2:p.Met4498_Gly4502delinsIle
ENST00000685198.1:c.13413_13424del	ENSP00000510528.1:p.Met4471_Gly4475delinsIle
ENST00000687971.1:c.13080_13091del	ENSP00000510788.1:p.Met4360_Gly4364delinsIle
ENST00000693060.1:c.13293_13304del	ENSP00000510329.1:p.Met4431_Gly4435delinsIle
ENST00000345136.8:c.13362_13373del MANE Select	ENSP00000344848.3:p.Met4454_Gly4458delinsIle
ENST00000527303.2:c.10062_10073del	ENSP00000433982.2:p.Met3354_Gly3358delinsIle
ENST00000322810.8:c.13773_13784del	ENSP00000323856.4:p.Met4591_Gly4595delinsIle
ENST00000345136.7:c.13362_13373del	ENSP00000344848.3:p.Met4454_Gly4458delinsIle
ENST00000354589.7:c.13362_13373del	ENSP00000346602.3:p.Met4454_Gly4458delinsIle
ENST00000354958.6:c.13296_13307del	ENSP00000347044.2:p.Met4432_Gly4436delinsIle
ENST00000356346.7:c.13320_13331del MANE Plus Clinical	ENSP00000348702.3:p.Met4440_Gly4444delinsIle
ENST00000357649.6:c.13374_13385del	ENSP00000350277.2:p.Met4458_Gly4462delinsIle
ENST00000398774.6:c.13266_13277del	ENSP00000381756.2:p.Met4422_Gly4426delinsIle
ENST00000436759.6:c.13443_13454del	ENSP00000388180.2:p.Met4481_Gly4485delinsIle
ENST00000527096.5:c.13431_13442del	ENSP00000434583.1:p.Met4477_Gly4481delinsIle
NM_000445.4:c.13443_13454del	NP_000436.2:p.Met4481_Gly4485delinsIle
NM_201378.3:c.13320_13331del	NP_958780.1:p.Met4440_Gly4444delinsIle
NM_201379.2:c.13296_13307del	NP_958781.1:p.Met4432_Gly4436delinsIle
NM_201380.3:c.13773_13784del	NP_958782.1:p.Met4591_Gly4595delinsIle
NM_201381.2:c.13266_13277del	NP_958783.1:p.Met4422_Gly4426delinsIle
NM_201382.3:c.13362_13373del	NP_958784.1:p.Met4454_Gly4458delinsIle
NM_201383.2:c.13374_13385del	NP_958785.1:p.Met4458_Gly4462delinsIle
NM_201384.2:c.13362_13373del	NP_958786.1:p.Met4454_Gly4458delinsIle
XM_005250976.2:c.13788_13799del	XP_005251033.1:p.Met4596_Gly4600delinsIle
XM_005250978.2:c.13389_13400del	XP_005251035.1:p.Met4463_Gly4467delinsIle
XM_005250979.3:c.13377_13388del	XP_005251036.1:p.Met4459_Gly4463delinsIle
XM_005250980.3:c.13377_13388del	XP_005251037.1:p.Met4459_Gly4463delinsIle
XM_005250981.2:c.13335_13346del	XP_005251038.1:p.Met4445_Gly4449delinsIle
XM_005250982.2:c.13311_13322del	XP_005251039.1:p.Met4437_Gly4441delinsIle
XM_005250983.2:c.13293_13304del	XP_005251040.1:p.Met4431_Gly4435delinsIle
XM_005250984.3:c.13281_13292del	XP_005251041.1:p.Met4427_Gly4431delinsIle
XM_006716588.2:c.13458_13469del	XP_006716651.1:p.Met4486_Gly4490delinsIle
XM_006716589.2:c.13308_13319del	XP_006716652.1:p.Met4436_Gly4440delinsIle
XM_006716590.2:c.13308_13319del	XP_006716653.1:p.Met4436_Gly4440delinsIle
XM_011517130.1:c.13377_13388del	XP_011515432.1:p.Met4459_Gly4463delinsIle
XM_011517131.1:c.13293_13304del	XP_011515433.1:p.Met4431_Gly4435delinsIle
XM_011517132.1:c.10008_10019del	XP_011515434.1:p.Met3336_Gly3340delinsIle
XM_005250976.4:c.13788_13799del	XP_005251033.1:p.Met4596_Gly4600delinsIle
XM_005250978.3:c.13389_13400del	XP_005251035.1:p.Met4463_Gly4467delinsIle
XM_005250979.4:c.13377_13388del	XP_005251036.1:p.Met4459_Gly4463delinsIle
XM_005250980.4:c.13377_13388del	XP_005251037.1:p.Met4459_Gly4463delinsIle
XM_005250981.3:c.13335_13346del	XP_005251038.1:p.Met4445_Gly4449delinsIle
XM_005250982.4:c.13311_13322del	XP_005251039.1:p.Met4437_Gly4441delinsIle
XM_005250984.5:c.13281_13292del	XP_005251041.1:p.Met4427_Gly4431delinsIle
XM_006716588.3:c.13458_13469del	XP_006716651.1:p.Met4486_Gly4490delinsIle
XM_006716590.3:c.13308_13319del	XP_006716653.1:p.Met4436_Gly4440delinsIle
XM_011517130.2:c.13377_13388del	XP_011515432.1:p.Met4459_Gly4463delinsIle
XM_011517131.2:c.13293_13304del	XP_011515433.1:p.Met4431_Gly4435delinsIle
XM_011517132.2:c.10008_10019del	XP_011515434.1:p.Met3336_Gly3340delinsIle
NM_000445.5:c.13443_13454del	NP_000436.2:p.Met4481_Gly4485delinsIle
NM_201378.4:c.13320_13331del MANE Plus Clinical	NP_958780.1:p.Met4440_Gly4444delinsIle
NM_201379.3:c.13296_13307del	NP_958781.1:p.Met4432_Gly4436delinsIle
NM_201380.4:c.13773_13784del	NP_958782.1:p.Met4591_Gly4595delinsIle
NM_201381.3:c.13266_13277del	NP_958783.1:p.Met4422_Gly4426delinsIle
NM_201382.4:c.13362_13373del	NP_958784.1:p.Met4454_Gly4458delinsIle
NM_201383.3:c.13374_13385del	NP_958785.1:p.Met4458_Gly4462delinsIle
NM_201384.3:c.13362_13373del MANE Select	NP_958786.1:p.Met4454_Gly4458delinsIle