Canonical Allele Identifier: CA2580079633

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824826dup , CM000671.2:g.127824826dup	GRCh38
NC_000009.11:g.130587105dup , CM000671.1:g.130587105dup	GRCh37
NC_000009.10:g.129626926dup	NCBI36
NG_009551.1:g.34944dup , LRG_589:g.34944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.420dup	ENSP00000479015.1:p.Val141CysfsTer11
ENST00000373203.9:c.966dup MANE Select	ENSP00000362299.4:p.Val323CysfsTer11
ENST00000344849.4:c.966dup	ENSP00000341917.3:p.Val323CysfsTer11
ENST00000373203.8:c.966dup	ENSP00000362299.4:p.Val323CysfsTer11
ENST00000480266.5:c.420dup	ENSP00000479015.1:p.Val141CysfsTer11
NM_000118.3:c.966dup , LRG_589t1:c.966dup	NP_000109.1:p.Val323CysfsTer11
NM_001114753.2:c.966dup , LRG_589t2:c.966dup	NP_001108225.1:p.Val323CysfsTer11
NM_001278138.1:c.420dup	NP_001265067.1:p.Val141CysfsTer11
NM_001114753.3:c.966dup MANE Select	NP_001108225.1:p.Val323CysfsTer11
NM_001278138.2:c.420dup	NP_001265067.1:p.Val141CysfsTer11