Canonical Allele Identifier: CA10632640

Gene: ENG

Linked Data

• ClinVar Variation Id: 365078
• ClinVar RCV Id: RCV000263182
• dbSNP Id: rs41514846
• gnomAD v2: 9-130577492-CAGTT-C
• gnomAD v3: 9-127815213-CAGTT-C
• gnomAD v4: 9-127815213-CAGTT-C
• COSMIC: COSN20106622 ; COSN20106623
• MyVariant Identifiers: chr9:g.130577493_130577496del (hg19) ; chr9:g.127815214_127815217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815220_127815223del , CM000671.2:g.127815220_127815223del	GRCh38
NC_000009.11:g.130577499_130577502del , CM000671.1:g.130577499_130577502del	GRCh37
NC_000009.10:g.129617320_129617323del	NCBI36
NG_009551.1:g.44552_44555del , LRG_589:g.44552_44555del
NG_023245.1:g.17346_17349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.*465_*468del	ENSP00000479015.1:n.*465_*468del
ENST00000373203.9:c.*465_*468del MANE Select	ENSP00000362299.4:n.*465_*468del
ENST00000344849.4:c.*700_*703del	ENSP00000341917.3:n.*700_*703del
ENST00000373203.8:c.*465_*468del	ENSP00000362299.4:n.*465_*468del
ENST00000480266.5:c.*465_*468del	ENSP00000479015.1:n.*465_*468del
NM_000118.3:c.*700_*703del , LRG_589t1:c.*700_*703del	NP_000109.1:n.*700_*703del
NM_001114753.2:c.*465_*468del , LRG_589t2:c.*465_*468del	NP_001108225.1:n.*465_*468del
NM_001278138.1:c.*465_*468del	NP_001265067.1:n.*465_*468del
NM_001114753.3:c.*465_*468del MANE Select	NP_001108225.1:n.*465_*468del
NM_001278138.2:c.*465_*468del	NP_001265067.1:n.*465_*468del