Canonical Allele Identifier: CA2689011288

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916580-CGCTGCAGGGCCTCGTCCAGGGGCACGCGGCCCGGCGTGTCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916584_143916625del , CM000670.2:g.143916584_143916625del	GRCh38
NC_000008.10:g.144990752_144990793del , CM000670.1:g.144990752_144990793del	GRCh37
NC_000008.9:g.145062740_145062781del	NCBI36
NG_012492.1:g.65124_65165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13331_13372del	ENSP00000437303.2:p.Pro4444_Gln4457del
ENST00000685198.1:c.13250_13291del	ENSP00000510528.1:p.Pro4417_Gln4430del
ENST00000687971.1:c.12917_12958del	ENSP00000510788.1:p.Pro4306_Gln4319del
ENST00000693060.1:c.13130_13171del	ENSP00000510329.1:p.Pro4377_Gln4390del
ENST00000345136.8:c.13199_13240del MANE Select	ENSP00000344848.3:p.Pro4400_Gln4413del
ENST00000527303.2:c.9899_9940del	ENSP00000433982.2:p.Pro3300_Gln3313del
ENST00000322810.8:c.13610_13651del	ENSP00000323856.4:p.Pro4537_Gln4550del
ENST00000345136.7:c.13199_13240del	ENSP00000344848.3:p.Pro4400_Gln4413del
ENST00000354589.7:c.13199_13240del	ENSP00000346602.3:p.Pro4400_Gln4413del
ENST00000354958.6:c.13133_13174del	ENSP00000347044.2:p.Pro4378_Gln4391del
ENST00000356346.7:c.13157_13198del MANE Plus Clinical	ENSP00000348702.3:p.Pro4386_Gln4399del
ENST00000357649.6:c.13211_13252del	ENSP00000350277.2:p.Pro4404_Gln4417del
ENST00000398774.6:c.13103_13144del	ENSP00000381756.2:p.Pro4368_Gln4381del
ENST00000436759.6:c.13280_13321del	ENSP00000388180.2:p.Pro4427_Gln4440del
ENST00000527096.5:c.13268_13309del	ENSP00000434583.1:p.Pro4423_Gln4436del
NM_000445.4:c.13280_13321del	NP_000436.2:p.Pro4427_Gln4440del
NM_201378.3:c.13157_13198del	NP_958780.1:p.Pro4386_Gln4399del
NM_201379.2:c.13133_13174del	NP_958781.1:p.Pro4378_Gln4391del
NM_201380.3:c.13610_13651del	NP_958782.1:p.Pro4537_Gln4550del
NM_201381.2:c.13103_13144del	NP_958783.1:p.Pro4368_Gln4381del
NM_201382.3:c.13199_13240del	NP_958784.1:p.Pro4400_Gln4413del
NM_201383.2:c.13211_13252del	NP_958785.1:p.Pro4404_Gln4417del
NM_201384.2:c.13199_13240del	NP_958786.1:p.Pro4400_Gln4413del
XM_005250976.2:c.13625_13666del	XP_005251033.1:p.Pro4542_Gln4555del
XM_005250978.2:c.13226_13267del	XP_005251035.1:p.Pro4409_Gln4422del
XM_005250979.3:c.13214_13255del	XP_005251036.1:p.Pro4405_Gln4418del
XM_005250980.3:c.13214_13255del	XP_005251037.1:p.Pro4405_Gln4418del
XM_005250981.2:c.13172_13213del	XP_005251038.1:p.Pro4391_Gln4404del
XM_005250982.2:c.13148_13189del	XP_005251039.1:p.Pro4383_Gln4396del
XM_005250983.2:c.13130_13171del	XP_005251040.1:p.Pro4377_Gln4390del
XM_005250984.3:c.13118_13159del	XP_005251041.1:p.Pro4373_Gln4386del
XM_006716588.2:c.13295_13336del	XP_006716651.1:p.Pro4432_Gln4445del
XM_006716589.2:c.13145_13186del	XP_006716652.1:p.Pro4382_Gln4395del
XM_006716590.2:c.13145_13186del	XP_006716653.1:p.Pro4382_Gln4395del
XM_011517130.1:c.13214_13255del	XP_011515432.1:p.Pro4405_Gln4418del
XM_011517131.1:c.13130_13171del	XP_011515433.1:p.Pro4377_Gln4390del
XM_011517132.1:c.9845_9886del	XP_011515434.1:p.Pro3282_Gln3295del
XM_005250976.4:c.13625_13666del	XP_005251033.1:p.Pro4542_Gln4555del
XM_005250978.3:c.13226_13267del	XP_005251035.1:p.Pro4409_Gln4422del
XM_005250979.4:c.13214_13255del	XP_005251036.1:p.Pro4405_Gln4418del
XM_005250980.4:c.13214_13255del	XP_005251037.1:p.Pro4405_Gln4418del
XM_005250981.3:c.13172_13213del	XP_005251038.1:p.Pro4391_Gln4404del
XM_005250982.4:c.13148_13189del	XP_005251039.1:p.Pro4383_Gln4396del
XM_005250984.5:c.13118_13159del	XP_005251041.1:p.Pro4373_Gln4386del
XM_006716588.3:c.13295_13336del	XP_006716651.1:p.Pro4432_Gln4445del
XM_006716590.3:c.13145_13186del	XP_006716653.1:p.Pro4382_Gln4395del
XM_011517130.2:c.13214_13255del	XP_011515432.1:p.Pro4405_Gln4418del
XM_011517131.2:c.13130_13171del	XP_011515433.1:p.Pro4377_Gln4390del
XM_011517132.2:c.9845_9886del	XP_011515434.1:p.Pro3282_Gln3295del
NM_000445.5:c.13280_13321del	NP_000436.2:p.Pro4427_Gln4440del
NM_201378.4:c.13157_13198del MANE Plus Clinical	NP_958780.1:p.Pro4386_Gln4399del
NM_201379.3:c.13133_13174del	NP_958781.1:p.Pro4378_Gln4391del
NM_201380.4:c.13610_13651del	NP_958782.1:p.Pro4537_Gln4550del
NM_201381.3:c.13103_13144del	NP_958783.1:p.Pro4368_Gln4381del
NM_201382.4:c.13199_13240del	NP_958784.1:p.Pro4400_Gln4413del
NM_201383.3:c.13211_13252del	NP_958785.1:p.Pro4404_Gln4417del
NM_201384.3:c.13199_13240del MANE Select	NP_958786.1:p.Pro4400_Gln4413del