Canonical Allele Identifier: CA1129279389

Gene: ENG

Linked Data

• dbSNP Id: rs71380096
• gnomAD v3: 9-127824512-C-CTTTTTTTTT
• gnomAD v4: 9-127824512-C-CTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824528_127824536dup , CM000671.2:g.127824528_127824536dup	GRCh38
NC_000009.11:g.130586807_130586815dup , CM000671.1:g.130586807_130586815dup	GRCh37
NC_000009.10:g.129626628_129626636dup	NCBI36
NG_009551.1:g.35248_35256dup , LRG_589:g.35248_35256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446-75_446-67dup	ENSP00000479015.1:n.446-75_446-67dup
ENST00000373203.9:c.992-75_992-67dup MANE Select	ENSP00000362299.4:n.992-75_992-67dup
ENST00000344849.4:c.992-75_992-67dup	ENSP00000341917.3:n.992-75_992-67dup
ENST00000373203.8:c.992-75_992-67dup	ENSP00000362299.4:n.992-75_992-67dup
ENST00000480266.5:c.446-75_446-67dup	ENSP00000479015.1:n.446-75_446-67dup
NM_000118.3:c.992-75_992-67dup , LRG_589t1:c.992-75_992-67dup	NP_000109.1:n.992-75_992-67dup
NM_001114753.2:c.992-75_992-67dup , LRG_589t2:c.992-75_992-67dup	NP_001108225.1:n.992-75_992-67dup
NM_001278138.1:c.446-75_446-67dup	NP_001265067.1:n.446-75_446-67dup
NM_001114753.3:c.992-75_992-67dup MANE Select	NP_001108225.1:n.992-75_992-67dup
NM_001278138.2:c.446-75_446-67dup	NP_001265067.1:n.446-75_446-67dup