Canonical Allele Identifier: CA200301190

Gene: ENG

Linked Data

• dbSNP Id: rs144922497
• MyVariant Identifiers: chr9:g.130578049_130578050insC (hg19) ; chr9:g.127815770_127815771insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815772dup , CM000671.2:g.127815772dup	GRCh38
NC_000009.11:g.130578051dup , CM000671.1:g.130578051dup	GRCh37
NC_000009.10:g.129617872dup	NCBI36
NG_009551.1:g.43998dup , LRG_589:g.43998dup
NG_023245.1:g.17898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1342dup	ENSP00000479015.1:p.Ala448GlyfsTer?
ENST00000373203.9:c.1888dup MANE Select	ENSP00000362299.4:p.Ala630GlyfsTer?
ENST00000344849.4:c.*146dup	ENSP00000341917.3:n.*146dup
ENST00000373203.8:c.1888dup	ENSP00000362299.4:p.Ala630GlyfsTer?
ENST00000480266.5:c.1342dup	ENSP00000479015.1:p.Ala448GlyfsTer?
NM_000118.3:c.*146dup , LRG_589t1:c.*146dup	NP_000109.1:n.*146dup
NM_001114753.2:c.1888dup , LRG_589t2:c.1888dup	NP_001108225.1:p.Ala630GlyfsTer?
NM_001278138.1:c.1342dup	NP_001265067.1:p.Ala448GlyfsTer?
NM_001114753.3:c.1888dup MANE Select	NP_001108225.1:p.Ala630GlyfsTer?
NM_001278138.2:c.1342dup	NP_001265067.1:p.Ala448GlyfsTer?