Canonical Allele Identifier: CA2695211238

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824390_127824391dup , CM000671.2:g.127824390_127824391dup	GRCh38
NC_000009.11:g.130586669_130586670dup , CM000671.1:g.130586669_130586670dup	GRCh37
NC_000009.10:g.129626490_129626491dup	NCBI36
NG_009551.1:g.35378_35379dup , LRG_589:g.35378_35379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.501_502dup	ENSP00000479015.1:p.Cys168PhefsTer10
ENST00000373203.9:c.1047_1048dup MANE Select	ENSP00000362299.4:p.Cys350PhefsTer10
ENST00000344849.4:c.1047_1048dup	ENSP00000341917.3:p.Cys350PhefsTer10
ENST00000373203.8:c.1047_1048dup	ENSP00000362299.4:p.Cys350PhefsTer10
ENST00000480266.5:c.501_502dup	ENSP00000479015.1:p.Cys168PhefsTer10
ENST00000486329.1:n.15_16dup
NM_000118.3:c.1047_1048dup , LRG_589t1:c.1047_1048dup	NP_000109.1:p.Cys350PhefsTer10
NM_001114753.2:c.1047_1048dup , LRG_589t2:c.1047_1048dup	NP_001108225.1:p.Cys350PhefsTer10
NM_001278138.1:c.501_502dup	NP_001265067.1:p.Cys168PhefsTer10
NM_001114753.3:c.1047_1048dup MANE Select	NP_001108225.1:p.Cys350PhefsTer10
NM_001278138.2:c.501_502dup	NP_001265067.1:p.Cys168PhefsTer10