Canonical Allele Identifier: CA848819945

Gene: PLEC

Linked Data

• dbSNP Id: rs1394470844
• MyVariant Identifiers: chr8:g.143916322_143916327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916323_143916328del , CM000670.2:g.143916323_143916328del	GRCh38
NC_000008.10:g.144990491_144990496del , CM000670.1:g.144990491_144990496del	GRCh37
NC_000008.9:g.145062479_145062484del	NCBI36
NG_012492.1:g.65419_65424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13626_13631del	ENSP00000437303.2:p.Ala4543_Gly4544del
ENST00000685198.1:c.13545_13550del	ENSP00000510528.1:p.Ala4516_Gly4517del
ENST00000687971.1:c.13212_13217del	ENSP00000510788.1:p.Ala4405_Gly4406del
ENST00000693060.1:c.13425_13430del	ENSP00000510329.1:p.Ala4476_Gly4477del
ENST00000345136.8:c.13494_13499del MANE Select	ENSP00000344848.3:p.Ala4499_Gly4500del
ENST00000527303.2:c.10194_10199del	ENSP00000433982.2:p.Ala3399_Gly3400del
ENST00000322810.8:c.13905_13910del	ENSP00000323856.4:p.Ala4636_Gly4637del
ENST00000345136.7:c.13494_13499del	ENSP00000344848.3:p.Ala4499_Gly4500del
ENST00000354589.7:c.13494_13499del	ENSP00000346602.3:p.Ala4499_Gly4500del
ENST00000354958.6:c.13428_13433del	ENSP00000347044.2:p.Ala4477_Gly4478del
ENST00000356346.7:c.13452_13457del MANE Plus Clinical	ENSP00000348702.3:p.Ala4485_Gly4486del
ENST00000357649.6:c.13506_13511del	ENSP00000350277.2:p.Ala4503_Gly4504del
ENST00000398774.6:c.13398_13403del	ENSP00000381756.2:p.Ala4467_Gly4468del
ENST00000436759.6:c.13575_13580del	ENSP00000388180.2:p.Ala4526_Gly4527del
ENST00000527096.5:c.13563_13568del	ENSP00000434583.1:p.Ala4522_Gly4523del
NM_000445.4:c.13575_13580del	NP_000436.2:p.Ala4526_Gly4527del
NM_201378.3:c.13452_13457del	NP_958780.1:p.Ala4485_Gly4486del
NM_201379.2:c.13428_13433del	NP_958781.1:p.Ala4477_Gly4478del
NM_201380.3:c.13905_13910del	NP_958782.1:p.Ala4636_Gly4637del
NM_201381.2:c.13398_13403del	NP_958783.1:p.Ala4467_Gly4468del
NM_201382.3:c.13494_13499del	NP_958784.1:p.Ala4499_Gly4500del
NM_201383.2:c.13506_13511del	NP_958785.1:p.Ala4503_Gly4504del
NM_201384.2:c.13494_13499del	NP_958786.1:p.Ala4499_Gly4500del
XM_005250976.2:c.13920_13925del	XP_005251033.1:p.Ala4641_Gly4642del
XM_005250978.2:c.13521_13526del	XP_005251035.1:p.Ala4508_Gly4509del
XM_005250979.3:c.13509_13514del	XP_005251036.1:p.Ala4504_Gly4505del
XM_005250980.3:c.13509_13514del	XP_005251037.1:p.Ala4504_Gly4505del
XM_005250981.2:c.13467_13472del	XP_005251038.1:p.Ala4490_Gly4491del
XM_005250982.2:c.13443_13448del	XP_005251039.1:p.Ala4482_Gly4483del
XM_005250983.2:c.13425_13430del	XP_005251040.1:p.Ala4476_Gly4477del
XM_005250984.3:c.13413_13418del	XP_005251041.1:p.Ala4472_Gly4473del
XM_006716588.2:c.13590_13595del	XP_006716651.1:p.Ala4531_Gly4532del
XM_006716589.2:c.13440_13445del	XP_006716652.1:p.Ala4481_Gly4482del
XM_006716590.2:c.13440_13445del	XP_006716653.1:p.Ala4481_Gly4482del
XM_011517130.1:c.13509_13514del	XP_011515432.1:p.Ala4504_Gly4505del
XM_011517131.1:c.13425_13430del	XP_011515433.1:p.Ala4476_Gly4477del
XM_011517132.1:c.10140_10145del	XP_011515434.1:p.Ala3381_Gly3382del
XM_005250976.4:c.13920_13925del	XP_005251033.1:p.Ala4641_Gly4642del
XM_005250978.3:c.13521_13526del	XP_005251035.1:p.Ala4508_Gly4509del
XM_005250979.4:c.13509_13514del	XP_005251036.1:p.Ala4504_Gly4505del
XM_005250980.4:c.13509_13514del	XP_005251037.1:p.Ala4504_Gly4505del
XM_005250981.3:c.13467_13472del	XP_005251038.1:p.Ala4490_Gly4491del
XM_005250982.4:c.13443_13448del	XP_005251039.1:p.Ala4482_Gly4483del
XM_005250984.5:c.13413_13418del	XP_005251041.1:p.Ala4472_Gly4473del
XM_006716588.3:c.13590_13595del	XP_006716651.1:p.Ala4531_Gly4532del
XM_006716590.3:c.13440_13445del	XP_006716653.1:p.Ala4481_Gly4482del
XM_011517130.2:c.13509_13514del	XP_011515432.1:p.Ala4504_Gly4505del
XM_011517131.2:c.13425_13430del	XP_011515433.1:p.Ala4476_Gly4477del
XM_011517132.2:c.10140_10145del	XP_011515434.1:p.Ala3381_Gly3382del
NM_000445.5:c.13575_13580del	NP_000436.2:p.Ala4526_Gly4527del
NM_201378.4:c.13452_13457del MANE Plus Clinical	NP_958780.1:p.Ala4485_Gly4486del
NM_201379.3:c.13428_13433del	NP_958781.1:p.Ala4477_Gly4478del
NM_201380.4:c.13905_13910del	NP_958782.1:p.Ala4636_Gly4637del
NM_201381.3:c.13398_13403del	NP_958783.1:p.Ala4467_Gly4468del
NM_201382.4:c.13494_13499del	NP_958784.1:p.Ala4499_Gly4500del
NM_201383.3:c.13506_13511del	NP_958785.1:p.Ala4503_Gly4504del
NM_201384.3:c.13494_13499del MANE Select	NP_958786.1:p.Ala4499_Gly4500del