Canonical Allele Identifier: CA658656031
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 458325
ClinVar RCV Id: RCV002231256
dbSNP Id: rs1554810041

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824328dup , CM000671.2:g.127824328dup GRCh38
NC_000009.11:g.130586607dup , CM000671.1:g.130586607dup GRCh37
NC_000009.10:g.129626428dup NCBI36
NG_009551.1:g.35442dup , LRG_589:g.35442dup

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.565dup ENSP00000479015.1:p.Val189GlyfsTer25
ENST00000373203.9:c.1111dup MANE Select ENSP00000362299.4:p.Val371GlyfsTer25
ENST00000344849.4:c.1111dup ENSP00000341917.3:p.Val371GlyfsTer25
ENST00000373203.8:c.1111dup ENSP00000362299.4:p.Val371GlyfsTer25
ENST00000480266.5:c.565dup ENSP00000479015.1:p.Val189GlyfsTer25
ENST00000486329.1:n.79dup
NM_000118.3:c.1111dup , LRG_589t1:c.1111dup NP_000109.1:p.Val371GlyfsTer25
NM_001114753.2:c.1111dup , LRG_589t2:c.1111dup NP_001108225.1:p.Val371GlyfsTer25
NM_001278138.1:c.565dup NP_001265067.1:p.Val189GlyfsTer25
NM_001114753.3:c.1111dup MANE Select NP_001108225.1:p.Val371GlyfsTer25
NM_001278138.2:c.565dup NP_001265067.1:p.Val189GlyfsTer25