Canonical Allele Identifier: CA1129272982

Gene: ENG

Linked Data

• dbSNP Id: rs1830277103
• gnomAD v3: 9-127815288-T-TC
• gnomAD v4: 9-127815288-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815291dup , CM000671.2:g.127815291dup	GRCh38
NC_000009.11:g.130577570dup , CM000671.1:g.130577570dup	GRCh37
NC_000009.10:g.129617391dup	NCBI36
NG_009551.1:g.44480dup , LRG_589:g.44480dup
NG_023245.1:g.17417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*393dup	ENSP00000479015.1:n.*393dup
ENST00000373203.9:c.*393dup MANE Select	ENSP00000362299.4:n.*393dup
ENST00000344849.4:c.*628dup	ENSP00000341917.3:n.*628dup
ENST00000373203.8:c.*393dup	ENSP00000362299.4:n.*393dup
ENST00000480266.5:c.*393dup	ENSP00000479015.1:n.*393dup
NM_000118.3:c.*628dup , LRG_589t1:c.*628dup	NP_000109.1:n.*628dup
NM_001114753.2:c.*393dup , LRG_589t2:c.*393dup	NP_001108225.1:n.*393dup
NM_001278138.1:c.*393dup	NP_001265067.1:n.*393dup
NM_001114753.3:c.*393dup MANE Select	NP_001108225.1:n.*393dup
NM_001278138.2:c.*393dup	NP_001265067.1:n.*393dup