Canonical Allele Identifier: CA658656051

Gene: ENG

Linked Data

• ClinVar Variation Id: 458333
• ClinVar RCV Id: RCV002231259
• dbSNP Id: rs1554809455
• MyVariant Identifiers: chr9:g.130581926dup (hg19) ; chr9:g.127819647dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819647dup , CM000671.2:g.127819647dup	GRCh38
NC_000009.11:g.130581926dup , CM000671.1:g.130581926dup	GRCh37
NC_000009.10:g.129621747dup	NCBI36
NG_009551.1:g.40122dup , LRG_589:g.40122dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.740dup	ENSP00000479015.1:p.Leu248ProfsTer?
ENST00000373203.9:c.1286dup MANE Select	ENSP00000362299.4:p.Leu430ProfsTer?
ENST00000344849.4:c.1286dup	ENSP00000341917.3:p.Leu430ProfsTer?
ENST00000373203.8:c.1286dup	ENSP00000362299.4:p.Leu430ProfsTer?
ENST00000480266.5:c.740dup	ENSP00000479015.1:p.Leu248ProfsTer?
ENST00000486329.1:n.254dup
NM_000118.3:c.1286dup , LRG_589t1:c.1286dup	NP_000109.1:p.Leu430ProfsTer?
NM_001114753.2:c.1286dup , LRG_589t2:c.1286dup	NP_001108225.1:p.Leu430ProfsTer?
NM_001278138.1:c.740dup	NP_001265067.1:p.Leu248ProfsTer?
NR_136302.1:n.1568+936dup
NM_001114753.3:c.1286dup MANE Select	NP_001108225.1:p.Leu430ProfsTer?
NM_001278138.2:c.740dup	NP_001265067.1:p.Leu248ProfsTer?