Canonical Allele Identifier: CA2691805169

Gene: ENG

Linked Data

• gnomAD v4: 9-127815175-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815178dup , CM000671.2:g.127815178dup	GRCh38
NC_000009.11:g.130577457dup , CM000671.1:g.130577457dup	GRCh37
NC_000009.10:g.129617278dup	NCBI36
NG_009551.1:g.44593dup , LRG_589:g.44593dup
NG_023245.1:g.17304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*506dup	ENSP00000479015.1:n.*506dup
ENST00000373203.9:c.*506dup MANE Select	ENSP00000362299.4:n.*506dup
ENST00000344849.4:c.*741dup	ENSP00000341917.3:n.*741dup
ENST00000373203.8:c.*506dup	ENSP00000362299.4:n.*506dup
ENST00000480266.5:c.*506dup	ENSP00000479015.1:n.*506dup
NM_000118.3:c.*741dup , LRG_589t1:c.*741dup	NP_000109.1:n.*741dup
NM_001114753.2:c.*506dup , LRG_589t2:c.*506dup	NP_001108225.1:n.*506dup
NM_001278138.1:c.*506dup	NP_001265067.1:n.*506dup
NM_001114753.3:c.*506dup MANE Select	NP_001108225.1:n.*506dup
NM_001278138.2:c.*506dup	NP_001265067.1:n.*506dup