Canonical Allele Identifier: CA2580079673

Gene: ENG

Linked Data

• ClinVar Variation Id: 1756675
• ClinVar RCV Id: RCV002364822

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825348dup , CM000671.2:g.127825348dup	GRCh38
NC_000009.11:g.130587627dup , CM000671.1:g.130587627dup	GRCh37
NC_000009.10:g.129627448dup	NCBI36
NG_009551.1:g.34422dup , LRG_589:g.34422dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.154dup	ENSP00000479015.1:p.Val52GlyfsTer?
ENST00000373203.9:c.700dup MANE Select	ENSP00000362299.4:p.Val234GlyfsTer?
ENST00000344849.4:c.700dup	ENSP00000341917.3:p.Val234GlyfsTer?
ENST00000373203.8:c.700dup	ENSP00000362299.4:p.Val234GlyfsTer?
ENST00000480266.5:c.154dup	ENSP00000479015.1:p.Val52GlyfsTer?
NM_000118.3:c.700dup , LRG_589t1:c.700dup	NP_000109.1:p.Val234GlyfsTer?
NM_001114753.2:c.700dup , LRG_589t2:c.700dup	NP_001108225.1:p.Val234GlyfsTer?
NM_001278138.1:c.154dup	NP_001265067.1:p.Val52GlyfsTer?
NM_001114753.3:c.700dup MANE Select	NP_001108225.1:p.Val234GlyfsTer?
NM_001278138.2:c.154dup	NP_001265067.1:p.Val52GlyfsTer?