Canonical Allele Identifier: CA590601095

Gene: ENG

Linked Data

• dbSNP Id: rs1195554494
• gnomAD v2: 9-130577468-C-CA
• gnomAD v3: 9-127815189-C-CA
• gnomAD v4: 9-127815189-C-CA
• MyVariant Identifiers: chr9:g.130577468_130577469insA (hg19) ; chr9:g.127815189_127815190insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815189_127815190insA , CM000671.2:g.127815189_127815190insA	GRCh38
NC_000009.11:g.130577468_130577469insA , CM000671.1:g.130577468_130577469insA	GRCh37
NC_000009.10:g.129617289_129617290insA	NCBI36
NG_009551.1:g.44579_44580insT , LRG_589:g.44579_44580insT
NG_023245.1:g.17315_17316insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*492_*493insT	ENSP00000479015.1:n.*492_*493insT
ENST00000373203.9:c.*492_*493insT MANE Select	ENSP00000362299.4:n.*492_*493insT
ENST00000344849.4:c.*727_*728insT	ENSP00000341917.3:n.*727_*728insT
ENST00000373203.8:c.*492_*493insT	ENSP00000362299.4:n.*492_*493insT
ENST00000480266.5:c.*492_*493insT	ENSP00000479015.1:n.*492_*493insT
NM_000118.3:c.*727_*728insT , LRG_589t1:c.*727_*728insT	NP_000109.1:n.*727_*728insT
NM_001114753.2:c.*492_*493insT , LRG_589t2:c.*492_*493insT	NP_001108225.1:n.*492_*493insT
NM_001278138.1:c.*492_*493insT	NP_001265067.1:n.*492_*493insT
NM_001114753.3:c.*492_*493insT MANE Select	NP_001108225.1:n.*492_*493insT
NM_001278138.2:c.*492_*493insT	NP_001265067.1:n.*492_*493insT