Canonical Allele Identifier: CA2689012111

Gene: PLEC

Linked Data

• gnomAD v4: 8-143933119-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933120dup , CM000670.2:g.143933120dup	GRCh38
NC_000008.10:g.145007288dup , CM000670.1:g.145007288dup	GRCh37
NC_000008.9:g.145079276dup	NCBI36
NG_012492.1:g.48626dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.1551-9dup	ENSP00000437303.2:n.1551-9dup
ENST00000685198.1:c.1470-9dup	ENSP00000510528.1:n.1470-9dup
ENST00000687971.1:c.1137-9dup	ENSP00000510788.1:n.1137-9dup
ENST00000693060.1:c.1350-9dup	ENSP00000510329.1:n.1350-9dup
ENST00000345136.8:c.1419-9dup MANE Select	ENSP00000344848.3:n.1419-9dup
ENST00000527303.2:c.1500-9dup	ENSP00000433982.2:n.1500-9dup
ENST00000322810.8:c.1830-9dup	ENSP00000323856.4:n.1830-9dup
ENST00000345136.7:c.1419-9dup	ENSP00000344848.3:n.1419-9dup
ENST00000354589.7:c.1419-9dup	ENSP00000346602.3:n.1419-9dup
ENST00000354958.6:c.1353-9dup	ENSP00000347044.2:n.1353-9dup
ENST00000356346.7:c.1377-9dup MANE Plus Clinical	ENSP00000348702.3:n.1377-9dup
ENST00000357649.6:c.1431-9dup	ENSP00000350277.2:n.1431-9dup
ENST00000398774.6:c.1323-9dup	ENSP00000381756.2:n.1323-9dup
ENST00000436759.6:c.1500-9dup	ENSP00000388180.2:n.1500-9dup
ENST00000527096.5:c.1488-9dup	ENSP00000434583.1:n.1488-9dup
ENST00000528025.5:c.1551-9dup	ENSP00000437303.1:n.1551-9dup
NM_000445.4:c.1500-9dup	NP_000436.2:n.1500-9dup
NM_201378.3:c.1377-9dup	NP_958780.1:n.1377-9dup
NM_201379.2:c.1353-9dup	NP_958781.1:n.1353-9dup
NM_201380.3:c.1830-9dup	NP_958782.1:n.1830-9dup
NM_201381.2:c.1323-9dup	NP_958783.1:n.1323-9dup
NM_201382.3:c.1419-9dup	NP_958784.1:n.1419-9dup
NM_201383.2:c.1431-9dup	NP_958785.1:n.1431-9dup
NM_201384.2:c.1419-9dup	NP_958786.1:n.1419-9dup
XM_005250976.2:c.1845-9dup	XP_005251033.1:n.1845-9dup
XM_005250978.2:c.1446-9dup	XP_005251035.1:n.1446-9dup
XM_005250979.3:c.1434-9dup	XP_005251036.1:n.1434-9dup
XM_005250980.3:c.1434-9dup	XP_005251037.1:n.1434-9dup
XM_005250981.2:c.1392-9dup	XP_005251038.1:n.1392-9dup
XM_005250982.2:c.1368-9dup	XP_005251039.1:n.1368-9dup
XM_005250983.2:c.1350-9dup	XP_005251040.1:n.1350-9dup
XM_005250984.3:c.1338-9dup	XP_005251041.1:n.1338-9dup
XM_006716588.2:c.1515-9dup	XP_006716651.1:n.1515-9dup
XM_006716589.2:c.1365-9dup	XP_006716652.1:n.1365-9dup
XM_006716590.2:c.1365-9dup	XP_006716653.1:n.1365-9dup
XM_011517130.1:c.1434-9dup	XP_011515432.1:n.1434-9dup
XM_011517131.1:c.1350-9dup	XP_011515433.1:n.1350-9dup
XM_011517132.1:c.1446-9dup	XP_011515434.1:n.1446-9dup
XM_005250976.4:c.1845-9dup	XP_005251033.1:n.1845-9dup
XM_005250978.3:c.1446-9dup	XP_005251035.1:n.1446-9dup
XM_005250979.4:c.1434-9dup	XP_005251036.1:n.1434-9dup
XM_005250980.4:c.1434-9dup	XP_005251037.1:n.1434-9dup
XM_005250981.3:c.1392-9dup	XP_005251038.1:n.1392-9dup
XM_005250982.4:c.1368-9dup	XP_005251039.1:n.1368-9dup
XM_005250984.5:c.1338-9dup	XP_005251041.1:n.1338-9dup
XM_006716588.3:c.1515-9dup	XP_006716651.1:n.1515-9dup
XM_006716590.3:c.1365-9dup	XP_006716653.1:n.1365-9dup
XM_011517130.2:c.1434-9dup	XP_011515432.1:n.1434-9dup
XM_011517131.2:c.1350-9dup	XP_011515433.1:n.1350-9dup
XM_011517132.2:c.1446-9dup	XP_011515434.1:n.1446-9dup
NM_000445.5:c.1500-9dup	NP_000436.2:n.1500-9dup
NM_201378.4:c.1377-9dup MANE Plus Clinical	NP_958780.1:n.1377-9dup
NM_201379.3:c.1353-9dup	NP_958781.1:n.1353-9dup
NM_201380.4:c.1830-9dup	NP_958782.1:n.1830-9dup
NM_201381.3:c.1323-9dup	NP_958783.1:n.1323-9dup
NM_201382.4:c.1419-9dup	NP_958784.1:n.1419-9dup
NM_201383.3:c.1431-9dup	NP_958785.1:n.1431-9dup
NM_201384.3:c.1419-9dup MANE Select	NP_958786.1:n.1419-9dup