Canonical Allele Identifier: CA2580617564

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824890_127824891dup , CM000671.2:g.127824890_127824891dup	GRCh38
NC_000009.11:g.130587169_130587170dup , CM000671.1:g.130587169_130587170dup	GRCh37
NC_000009.10:g.129626990_129626991dup	NCBI36
NG_009551.1:g.34881_34882dup , LRG_589:g.34881_34882dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.357_358dup	ENSP00000479015.1:p.Glu120GlyfsTer?
ENST00000373203.9:c.903_904dup MANE Select	ENSP00000362299.4:p.Glu302GlyfsTer?
ENST00000344849.4:c.903_904dup	ENSP00000341917.3:p.Glu302GlyfsTer?
ENST00000373203.8:c.903_904dup	ENSP00000362299.4:p.Glu302GlyfsTer?
ENST00000480266.5:c.357_358dup	ENSP00000479015.1:p.Glu120GlyfsTer?
NM_000118.3:c.903_904dup , LRG_589t1:c.903_904dup	NP_000109.1:p.Glu302GlyfsTer?
NM_001114753.2:c.903_904dup , LRG_589t2:c.903_904dup	NP_001108225.1:p.Glu302GlyfsTer?
NM_001278138.1:c.357_358dup	NP_001265067.1:p.Glu120GlyfsTer?
NM_001114753.3:c.903_904dup MANE Select	NP_001108225.1:p.Glu302GlyfsTer?
NM_001278138.2:c.357_358dup	NP_001265067.1:p.Glu120GlyfsTer?