Canonical Allele Identifier: CA249447

Gene: PLEC

Linked Data

• ClinVar Variation Id: 8259
• ClinVar RCV Id: RCV001383874 ; RCV002247277
• dbSNP Id: rs786205252
• gnomAD v2: 8-145004319-CGGCCTCCTG-C
• gnomAD v3: 8-143930151-CGGCCTCCTG-C
• gnomAD v4: 8-143930151-CGGCCTCCTG-C
• MyVariant Identifiers: chr8:g.145004320_145004328del (hg19) ; chr8:g.143930152_143930160del (hg38)
• PubMed: PMID:8894687 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143930162_143930170del , CM000670.2:g.143930162_143930170del	GRCh38
NC_000008.10:g.145004330_145004338del , CM000670.1:g.145004330_145004338del	GRCh37
NC_000008.9:g.145076318_145076326del	NCBI36
NG_012492.1:g.51586_51594del

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.2728_2736del	ENSP00000437303.2:p.Gln910_Ala912del
ENST00000685198.1:c.2647_2655del	ENSP00000510528.1:p.Gln883_Ala885del
ENST00000687971.1:c.2314_2322del	ENSP00000510788.1:p.Gln772_Ala774del
ENST00000693060.1:c.2527_2535del	ENSP00000510329.1:p.Gln843_Ala845del
ENST00000345136.8:c.2596_2604del MANE Select	ENSP00000344848.3:p.Gln866_Ala868del
ENST00000527303.2:c.2677_2685del	ENSP00000433982.2:p.Gln893_Ala895del
ENST00000322810.8:c.3007_3015del	ENSP00000323856.4:p.Gln1003_Ala1005del
ENST00000345136.7:c.2596_2604del	ENSP00000344848.3:p.Gln866_Ala868del
ENST00000354589.7:c.2596_2604del	ENSP00000346602.3:p.Gln866_Ala868del
ENST00000354958.6:c.2530_2538del	ENSP00000347044.2:p.Gln844_Ala846del
ENST00000356346.7:c.2554_2562del MANE Plus Clinical	ENSP00000348702.3:p.Gln852_Ala854del
ENST00000357649.6:c.2608_2616del	ENSP00000350277.2:p.Gln870_Ala872del
ENST00000398774.6:c.2500_2508del	ENSP00000381756.2:p.Gln834_Ala836del
ENST00000436759.6:c.2677_2685del	ENSP00000388180.2:p.Gln893_Ala895del
ENST00000527096.5:c.2665_2673del	ENSP00000434583.1:p.Gln889_Ala891del
NM_000445.4:c.2677_2685del	NP_000436.2:p.Gln893_Ala895del
NM_201378.3:c.2554_2562del	NP_958780.1:p.Gln852_Ala854del
NM_201379.2:c.2530_2538del	NP_958781.1:p.Gln844_Ala846del
NM_201380.3:c.3007_3015del	NP_958782.1:p.Gln1003_Ala1005del
NM_201381.2:c.2500_2508del	NP_958783.1:p.Gln834_Ala836del
NM_201382.3:c.2596_2604del	NP_958784.1:p.Gln866_Ala868del
NM_201383.2:c.2608_2616del	NP_958785.1:p.Gln870_Ala872del
NM_201384.2:c.2596_2604del	NP_958786.1:p.Gln866_Ala868del
XM_005250976.2:c.3022_3030del	XP_005251033.1:p.Gln1008_Ala1010del
XM_005250978.2:c.2623_2631del	XP_005251035.1:p.Gln875_Ala877del
XM_005250979.3:c.2611_2619del	XP_005251036.1:p.Gln871_Ala873del
XM_005250980.3:c.2611_2619del	XP_005251037.1:p.Gln871_Ala873del
XM_005250981.2:c.2569_2577del	XP_005251038.1:p.Gln857_Ala859del
XM_005250982.2:c.2545_2553del	XP_005251039.1:p.Gln849_Ala851del
XM_005250983.2:c.2527_2535del	XP_005251040.1:p.Gln843_Ala845del
XM_005250984.3:c.2515_2523del	XP_005251041.1:p.Gln839_Ala841del
XM_006716588.2:c.2692_2700del	XP_006716651.1:p.Gln898_Ala900del
XM_006716589.2:c.2542_2550del	XP_006716652.1:p.Gln848_Ala850del
XM_006716590.2:c.2542_2550del	XP_006716653.1:p.Gln848_Ala850del
XM_011517130.1:c.2611_2619del	XP_011515432.1:p.Gln871_Ala873del
XM_011517131.1:c.2527_2535del	XP_011515433.1:p.Gln843_Ala845del
XM_011517132.1:c.2623_2631del	XP_011515434.1:p.Gln875_Ala877del
XM_005250976.4:c.3022_3030del	XP_005251033.1:p.Gln1008_Ala1010del
XM_005250978.3:c.2623_2631del	XP_005251035.1:p.Gln875_Ala877del
XM_005250979.4:c.2611_2619del	XP_005251036.1:p.Gln871_Ala873del
XM_005250980.4:c.2611_2619del	XP_005251037.1:p.Gln871_Ala873del
XM_005250981.3:c.2569_2577del	XP_005251038.1:p.Gln857_Ala859del
XM_005250982.4:c.2545_2553del	XP_005251039.1:p.Gln849_Ala851del
XM_005250984.5:c.2515_2523del	XP_005251041.1:p.Gln839_Ala841del
XM_006716588.3:c.2692_2700del	XP_006716651.1:p.Gln898_Ala900del
XM_006716590.3:c.2542_2550del	XP_006716653.1:p.Gln848_Ala850del
XM_011517130.2:c.2611_2619del	XP_011515432.1:p.Gln871_Ala873del
XM_011517131.2:c.2527_2535del	XP_011515433.1:p.Gln843_Ala845del
XM_011517132.2:c.2623_2631del	XP_011515434.1:p.Gln875_Ala877del
NM_000445.5:c.2677_2685del	NP_000436.2:p.Gln893_Ala895del
NM_201378.4:c.2554_2562del MANE Plus Clinical	NP_958780.1:p.Gln852_Ala854del
NM_201379.3:c.2530_2538del	NP_958781.1:p.Gln844_Ala846del
NM_201380.4:c.3007_3015del	NP_958782.1:p.Gln1003_Ala1005del
NM_201381.3:c.2500_2508del	NP_958783.1:p.Gln834_Ala836del
NM_201382.4:c.2596_2604del	NP_958784.1:p.Gln866_Ala868del
NM_201383.3:c.2608_2616del	NP_958785.1:p.Gln870_Ala872del
NM_201384.3:c.2596_2604del MANE Select	NP_958786.1:p.Gln866_Ala868del