Canonical Allele Identifier: CA2580079612

Gene: ENG

Linked Data

• ClinVar Variation Id: 1730628
• ClinVar RCV Id: RCV002454766

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820035dup , CM000671.2:g.127820035dup	GRCh38
NC_000009.11:g.130582314dup , CM000671.1:g.130582314dup	GRCh37
NC_000009.10:g.129622135dup	NCBI36
NG_009551.1:g.39736dup , LRG_589:g.39736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.593dup	ENSP00000479015.1:p.Leu198PhefsTer16
ENST00000373203.9:c.1139dup MANE Select	ENSP00000362299.4:p.Leu380PhefsTer16
ENST00000344849.4:c.1139dup	ENSP00000341917.3:p.Leu380PhefsTer16
ENST00000373203.8:c.1139dup	ENSP00000362299.4:p.Leu380PhefsTer16
ENST00000480266.5:c.593dup	ENSP00000479015.1:p.Leu198PhefsTer16
ENST00000486329.1:n.107dup
NM_000118.3:c.1139dup , LRG_589t1:c.1139dup	NP_000109.1:p.Leu380PhefsTer16
NM_001114753.2:c.1139dup , LRG_589t2:c.1139dup	NP_001108225.1:p.Leu380PhefsTer16
NM_001278138.1:c.593dup	NP_001265067.1:p.Leu198PhefsTer16
NR_136302.1:n.1569-1160dup
NM_001114753.3:c.1139dup MANE Select	NP_001108225.1:p.Leu380PhefsTer16
NM_001278138.2:c.593dup	NP_001265067.1:p.Leu198PhefsTer16