Canonical Allele Identifier: CA1139661220

Gene: ENG

Linked Data

• ClinVar Variation Id: 983204
• ClinVar RCV Id: RCV001263076 ; RCV001390951
• dbSNP Id: rs1830620247

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826541dup , CM000671.2:g.127826541dup	GRCh38
NC_000009.11:g.130588820dup , CM000671.1:g.130588820dup	GRCh37
NC_000009.10:g.129628641dup	NCBI36
NG_009551.1:g.33232dup , LRG_589:g.33232dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-51dup	ENSP00000479015.1:n.-51dup
ENST00000373203.9:c.496dup MANE Select	ENSP00000362299.4:p.Gln166ProfsTer?
ENST00000344849.4:c.496dup	ENSP00000341917.3:p.Gln166ProfsTer?
ENST00000373203.8:c.496dup	ENSP00000362299.4:p.Gln166ProfsTer?
ENST00000462196.1:n.396dup
ENST00000480266.5:c.-51dup	ENSP00000479015.1:n.-51dup
NM_000118.3:c.496dup , LRG_589t1:c.496dup	NP_000109.1:p.Gln166ProfsTer?
NM_001114753.2:c.496dup , LRG_589t2:c.496dup	NP_001108225.1:p.Gln166ProfsTer?
NM_001278138.1:c.-51dup	NP_001265067.1:n.-51dup
XR_001746952.2:n.82+1083dup
NM_001114753.3:c.496dup MANE Select	NP_001108225.1:p.Gln166ProfsTer?
NM_001278138.2:c.-51dup	NP_001265067.1:n.-51dup