Canonical Allele Identifier: CA2687657795

Gene: ELOC

Linked Data

• gnomAD v4: 8-73946949-A-ACCTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73946949_73946950insCCTCTTT , CM000670.2:g.73946949_73946950insCCTCTTT	GRCh38
NC_000008.10:g.74859184_74859185insCCTCTTT , CM000670.1:g.74859184_74859185insCCTCTTT	GRCh37
NC_000008.9:g.75021738_75021739insCCTCTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519487.6:c.218-130_218-129insAAAGAGG	ENSP00000429596.2:n.218-130_218-129insAAAGAGG
ENST00000622804.2:c.149-130_149-129insAAAGAGG	ENSP00000478121.1:n.149-130_149-129insAAAGAGG
ENST00000685250.1:n.257-130_257-129insAAAGAGG
ENST00000685938.1:c.212-130_212-129insAAAGAGG	ENSP00000509885.1:n.212-130_212-129insAAAGAGG
ENST00000687224.1:c.149-130_149-129insAAAGAGG	ENSP00000509184.1:n.149-130_149-129insAAAGAGG
ENST00000688584.1:c.101-130_101-129insAAAGAGG	ENSP00000509989.1:n.101-130_101-129insAAAGAGG
ENST00000692141.1:n.4223-130_4223-129insAAAGAGG
ENST00000520242.6:c.149-130_149-129insAAAGAGG MANE Select	ENSP00000428171.1:n.149-130_149-129insAAAGAGG
ENST00000284811.12:c.149-130_149-129insAAAGAGG	ENSP00000284811.8:n.149-130_149-129insAAAGAGG
ENST00000518127.5:c.149-130_149-129insAAAGAGG	ENSP00000428334.1:n.149-130_149-129insAAAGAGG
ENST00000519082.5:c.149-130_149-129insAAAGAGG	ENSP00000429789.1:n.149-130_149-129insAAAGAGG
ENST00000519487.5:c.149-130_149-129insAAAGAGG	ENSP00000429596.1:n.149-130_149-129insAAAGAGG
ENST00000520210.1:c.101-130_101-129insAAAGAGG	ENSP00000430224.1:n.101-130_101-129insAAAGAGG
ENST00000520242.5:c.149-130_149-129insAAAGAGG	ENSP00000428171.1:n.149-130_149-129insAAAGAGG
ENST00000522337.5:c.149-130_149-129insAAAGAGG	ENSP00000429906.1:n.149-130_149-129insAAAGAGG
ENST00000523815.5:c.149-130_149-129insAAAGAGG	ENSP00000428074.1:n.149-130_149-129insAAAGAGG
ENST00000602840.5:c.149-5345_149-5344insAAAGAGG	ENSP00000473408.1:n.149-5345_149-5344insAAAGAGG
ENST00000622804.1:c.149-130_149-129insAAAGAGG	ENSP00000478121.1:n.149-130_149-129insAAAGAGG
NM_001204857.1:c.149-130_149-129insAAAGAGG	NP_001191786.1:n.149-130_149-129insAAAGAGG
NM_001204858.1:c.149-130_149-129insAAAGAGG	NP_001191787.1:n.149-130_149-129insAAAGAGG
NM_001204859.1:c.149-130_149-129insAAAGAGG	NP_001191788.1:n.149-130_149-129insAAAGAGG
NM_001204860.1:c.149-130_149-129insAAAGAGG	NP_001191789.1:n.149-130_149-129insAAAGAGG
NM_001204861.1:c.149-130_149-129insAAAGAGG	NP_001191790.1:n.149-130_149-129insAAAGAGG
NM_001204862.1:c.149-130_149-129insAAAGAGG	NP_001191791.1:n.149-130_149-129insAAAGAGG
NM_001204863.1:c.101-130_101-129insAAAGAGG	NP_001191792.1:n.101-130_101-129insAAAGAGG
NM_001204864.1:c.101-130_101-129insAAAGAGG	NP_001191793.1:n.101-130_101-129insAAAGAGG
NM_005648.3:c.149-130_149-129insAAAGAGG	NP_005639.1:n.149-130_149-129insAAAGAGG
XM_011517580.1:c.149-130_149-129insAAAGAGG	XP_011515882.1:n.149-130_149-129insAAAGAGG
XM_011517581.1:c.149-130_149-129insAAAGAGG	XP_011515883.1:n.149-130_149-129insAAAGAGG
XM_011517580.2:c.149-130_149-129insAAAGAGG	XP_011515882.1:n.149-130_149-129insAAAGAGG
XM_011517581.2:c.149-130_149-129insAAAGAGG	XP_011515883.1:n.149-130_149-129insAAAGAGG
NM_001204858.2:c.149-130_149-129insAAAGAGG	NP_001191787.1:n.149-130_149-129insAAAGAGG
NM_001204859.2:c.149-130_149-129insAAAGAGG	NP_001191788.1:n.149-130_149-129insAAAGAGG
NM_001204863.2:c.101-130_101-129insAAAGAGG	NP_001191792.1:n.101-130_101-129insAAAGAGG
NM_005648.4:c.149-130_149-129insAAAGAGG MANE Select	NP_005639.1:n.149-130_149-129insAAAGAGG
NM_001204857.2:c.149-130_149-129insAAAGAGG	NP_001191786.1:n.149-130_149-129insAAAGAGG
NM_001204860.2:c.149-130_149-129insAAAGAGG	NP_001191789.1:n.149-130_149-129insAAAGAGG
NM_001204861.2:c.149-130_149-129insAAAGAGG	NP_001191790.1:n.149-130_149-129insAAAGAGG
NM_001204862.2:c.149-130_149-129insAAAGAGG	NP_001191791.1:n.149-130_149-129insAAAGAGG
NM_001204864.2:c.101-130_101-129insAAAGAGG	NP_001191793.1:n.101-130_101-129insAAAGAGG