Canonical Allele Identifier: CA582882933

Gene: ELOC

Linked Data

• dbSNP Id: rs1397522876
• gnomAD v2: 8-74858957-AGC-A
• gnomAD v3: 8-73946722-AGC-A
• gnomAD v4: 8-73946722-AGC-A
• MyVariant Identifiers: chr8:g.74858958_74858959del (hg19) ; chr8:g.73946723_73946724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73946724_73946725del , CM000670.2:g.73946724_73946725del	GRCh38
NC_000008.10:g.74858959_74858960del , CM000670.1:g.74858959_74858960del	GRCh37
NC_000008.9:g.75021513_75021514del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519487.6:c.314_315del	ENSP00000429596.2:p.Arg105LeufsTer3
ENST00000622804.2:c.245_246del	ENSP00000478121.1:p.Arg82LeufsTer3
ENST00000685250.1:n.353_354del
ENST00000685938.1:c.308_309del	ENSP00000509885.1:p.Arg103LeufsTer3
ENST00000687224.1:c.245_246del	ENSP00000509184.1:p.Arg82LeufsTer3
ENST00000688584.1:c.197_198del	ENSP00000509989.1:p.Arg66LeufsTer3
ENST00000692141.1:n.4319_4320del
ENST00000520242.6:c.245_246del MANE Select	ENSP00000428171.1:p.Arg82LeufsTer3
ENST00000284811.12:c.245_246del	ENSP00000284811.8:p.Arg82LeufsTer3
ENST00000518127.5:c.245_246del	ENSP00000428334.1:p.Arg82LeufsTer3
ENST00000519082.5:c.245_246del	ENSP00000429789.1:p.Arg82LeufsTer3
ENST00000519487.5:c.245_246del	ENSP00000429596.1:p.Arg82LeufsTer3
ENST00000520210.1:c.197_198del	ENSP00000430224.1:p.Arg66LeufsTer3
ENST00000520242.5:c.245_246del	ENSP00000428171.1:p.Arg82LeufsTer3
ENST00000522337.5:c.245_246del	ENSP00000429906.1:p.Arg82LeufsTer3
ENST00000523815.5:c.245_246del	ENSP00000428074.1:p.Arg82LeufsTer3
ENST00000602840.5:c.149-5119_149-5118del	ENSP00000473408.1:n.149-5119_149-5118del
ENST00000622804.1:c.245_246del	ENSP00000478121.1:p.Arg82LeufsTer3
NM_001204857.1:c.245_246del	NP_001191786.1:p.Arg82LeufsTer3
NM_001204858.1:c.245_246del	NP_001191787.1:p.Arg82LeufsTer3
NM_001204859.1:c.245_246del	NP_001191788.1:p.Arg82LeufsTer3
NM_001204860.1:c.245_246del	NP_001191789.1:p.Arg82LeufsTer3
NM_001204861.1:c.245_246del	NP_001191790.1:p.Arg82LeufsTer3
NM_001204862.1:c.245_246del	NP_001191791.1:p.Arg82LeufsTer3
NM_001204863.1:c.197_198del	NP_001191792.1:p.Arg66LeufsTer3
NM_001204864.1:c.197_198del	NP_001191793.1:p.Arg66LeufsTer3
NM_005648.3:c.245_246del	NP_005639.1:p.Arg82LeufsTer3
XM_011517580.1:c.245_246del	XP_011515882.1:p.Arg82LeufsTer3
XM_011517581.1:c.245_246del	XP_011515883.1:p.Arg82LeufsTer3
XM_011517580.2:c.245_246del	XP_011515882.1:p.Arg82LeufsTer3
XM_011517581.2:c.245_246del	XP_011515883.1:p.Arg82LeufsTer3
NM_001204858.2:c.245_246del	NP_001191787.1:p.Arg82LeufsTer3
NM_001204859.2:c.245_246del	NP_001191788.1:p.Arg82LeufsTer3
NM_001204863.2:c.197_198del	NP_001191792.1:p.Arg66LeufsTer3
NM_005648.4:c.245_246del MANE Select	NP_005639.1:p.Arg82LeufsTer3
NM_001204857.2:c.245_246del	NP_001191786.1:p.Arg82LeufsTer3
NM_001204860.2:c.245_246del	NP_001191789.1:p.Arg82LeufsTer3
NM_001204861.2:c.245_246del	NP_001191790.1:p.Arg82LeufsTer3
NM_001204862.2:c.245_246del	NP_001191791.1:p.Arg82LeufsTer3
NM_001204864.2:c.197_198del	NP_001191793.1:p.Arg66LeufsTer3