Canonical Allele Identifier: CA2580079644

Gene: ENG

Linked Data

• ClinVar Variation Id: 1763314
• ClinVar RCV Id: RCV002445882

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824950del , CM000671.2:g.127824950del	GRCh38
NC_000009.11:g.130587229del , CM000671.1:g.130587229del	GRCh37
NC_000009.10:g.129627050del	NCBI36
NG_009551.1:g.34819del , LRG_589:g.34819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.295del	ENSP00000479015.1:p.Ile99SerfsTer?
ENST00000373203.9:c.841del MANE Select	ENSP00000362299.4:p.Ile281SerfsTer?
ENST00000344849.4:c.841del	ENSP00000341917.3:p.Ile281SerfsTer?
ENST00000373203.8:c.841del	ENSP00000362299.4:p.Ile281SerfsTer?
ENST00000480266.5:c.295del	ENSP00000479015.1:p.Ile99SerfsTer?
NM_000118.3:c.841del , LRG_589t1:c.841del	NP_000109.1:p.Ile281SerfsTer?
NM_001114753.2:c.841del , LRG_589t2:c.841del	NP_001108225.1:p.Ile281SerfsTer?
NM_001278138.1:c.295del	NP_001265067.1:p.Ile99SerfsTer?
NM_001114753.3:c.841del MANE Select	NP_001108225.1:p.Ile281SerfsTer?
NM_001278138.2:c.295del	NP_001265067.1:p.Ile99SerfsTer?