Canonical Allele Identifier: CA2538740318

Gene: ELOC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73946763_73946764insTGTTG , CM000670.2:g.73946763_73946764insTGTTG	GRCh38
NC_000008.10:g.74858998_74858999insTGTTG , CM000670.1:g.74858998_74858999insTGTTG	GRCh37
NC_000008.9:g.75021552_75021553insTGTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519487.6:c.274_275insCAACA	ENSP00000429596.2:p.Val92AlafsTer?
ENST00000622804.2:c.205_206insCAACA	ENSP00000478121.1:p.Val69AlafsTer?
ENST00000685250.1:n.313_314insCAACA
ENST00000685938.1:c.268_269insCAACA	ENSP00000509885.1:p.Val90AlafsTer?
ENST00000687224.1:c.205_206insCAACA	ENSP00000509184.1:p.Val69AlafsTer?
ENST00000688584.1:c.157_158insCAACA	ENSP00000509989.1:p.Val53AlafsTer?
ENST00000692141.1:n.4279_4280insCAACA
ENST00000520242.6:c.205_206insCAACA MANE Select	ENSP00000428171.1:p.Val69AlafsTer?
ENST00000284811.12:c.205_206insCAACA	ENSP00000284811.8:p.Val69AlafsTer?
ENST00000518127.5:c.205_206insCAACA	ENSP00000428334.1:p.Val69AlafsTer?
ENST00000519082.5:c.205_206insCAACA	ENSP00000429789.1:p.Val69AlafsTer?
ENST00000519487.5:c.205_206insCAACA	ENSP00000429596.1:p.Val69AlafsTer?
ENST00000520210.1:c.157_158insCAACA	ENSP00000430224.1:p.Val53AlafsTer?
ENST00000520242.5:c.205_206insCAACA	ENSP00000428171.1:p.Val69AlafsTer?
ENST00000522337.5:c.205_206insCAACA	ENSP00000429906.1:p.Val69AlafsTer?
ENST00000523815.5:c.205_206insCAACA	ENSP00000428074.1:p.Val69AlafsTer?
ENST00000602840.5:c.149-5159_149-5158insCAACA	ENSP00000473408.1:n.149-5159_149-5158insCAACA
ENST00000622804.1:c.205_206insCAACA	ENSP00000478121.1:p.Val69AlafsTer?
NM_001204857.1:c.205_206insCAACA	NP_001191786.1:p.Val69AlafsTer?
NM_001204858.1:c.205_206insCAACA	NP_001191787.1:p.Val69AlafsTer?
NM_001204859.1:c.205_206insCAACA	NP_001191788.1:p.Val69AlafsTer?
NM_001204860.1:c.205_206insCAACA	NP_001191789.1:p.Val69AlafsTer?
NM_001204861.1:c.205_206insCAACA	NP_001191790.1:p.Val69AlafsTer?
NM_001204862.1:c.205_206insCAACA	NP_001191791.1:p.Val69AlafsTer?
NM_001204863.1:c.157_158insCAACA	NP_001191792.1:p.Val53AlafsTer?
NM_001204864.1:c.157_158insCAACA	NP_001191793.1:p.Val53AlafsTer?
NM_005648.3:c.205_206insCAACA	NP_005639.1:p.Val69AlafsTer?
XM_011517580.1:c.205_206insCAACA	XP_011515882.1:p.Val69AlafsTer?
XM_011517581.1:c.205_206insCAACA	XP_011515883.1:p.Val69AlafsTer?
XM_011517580.2:c.205_206insCAACA	XP_011515882.1:p.Val69AlafsTer?
XM_011517581.2:c.205_206insCAACA	XP_011515883.1:p.Val69AlafsTer?
NM_001204858.2:c.205_206insCAACA	NP_001191787.1:p.Val69AlafsTer?
NM_001204859.2:c.205_206insCAACA	NP_001191788.1:p.Val69AlafsTer?
NM_001204863.2:c.157_158insCAACA	NP_001191792.1:p.Val53AlafsTer?
NM_005648.4:c.205_206insCAACA MANE Select	NP_005639.1:p.Val69AlafsTer?
NM_001204857.2:c.205_206insCAACA	NP_001191786.1:p.Val69AlafsTer?
NM_001204860.2:c.205_206insCAACA	NP_001191789.1:p.Val69AlafsTer?
NM_001204861.2:c.205_206insCAACA	NP_001191790.1:p.Val69AlafsTer?
NM_001204862.2:c.205_206insCAACA	NP_001191791.1:p.Val69AlafsTer?
NM_001204864.2:c.157_158insCAACA	NP_001191793.1:p.Val53AlafsTer?