Canonical Allele Identifier: CA200300834

Gene: ENG

Linked Data

• dbSNP Id: rs34691816
• MyVariant Identifiers: chr9:g.130577659_130577660insC (hg19) ; chr9:g.127815380_127815381insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815382dup , CM000671.2:g.127815382dup	GRCh38
NC_000009.11:g.130577661dup , CM000671.1:g.130577661dup	GRCh37
NC_000009.10:g.129617482dup	NCBI36
NG_009551.1:g.44388dup , LRG_589:g.44388dup
NG_023245.1:g.17508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*301dup	ENSP00000479015.1:n.*301dup
ENST00000373203.9:c.*301dup MANE Select	ENSP00000362299.4:n.*301dup
ENST00000344849.4:c.*536dup	ENSP00000341917.3:n.*536dup
ENST00000373203.8:c.*301dup	ENSP00000362299.4:n.*301dup
ENST00000480266.5:c.*301dup	ENSP00000479015.1:n.*301dup
NM_000118.3:c.*536dup , LRG_589t1:c.*536dup	NP_000109.1:n.*536dup
NM_001114753.2:c.*301dup , LRG_589t2:c.*301dup	NP_001108225.1:n.*301dup
NM_001278138.1:c.*301dup	NP_001265067.1:n.*301dup
NM_001114753.3:c.*301dup MANE Select	NP_001108225.1:n.*301dup
NM_001278138.2:c.*301dup	NP_001265067.1:n.*301dup