Canonical Allele Identifier: CA590601104

Gene: ENG

Linked Data

• dbSNP Id: rs1469054375
• gnomAD v2: 9-130577596-TG-T
• gnomAD v3: 9-127815317-TG-T
• gnomAD v4: 9-127815317-TG-T
• MyVariant Identifiers: chr9:g.130577597del (hg19) ; chr9:g.127815318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815320del , CM000671.2:g.127815320del	GRCh38
NC_000009.11:g.130577599del , CM000671.1:g.130577599del	GRCh37
NC_000009.10:g.129617420del	NCBI36
NG_009551.1:g.44451del , LRG_589:g.44451del
NG_023245.1:g.17446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*364del	ENSP00000479015.1:n.*364del
ENST00000373203.9:c.*364del MANE Select	ENSP00000362299.4:n.*364del
ENST00000344849.4:c.*599del	ENSP00000341917.3:n.*599del
ENST00000373203.8:c.*364del	ENSP00000362299.4:n.*364del
ENST00000480266.5:c.*364del	ENSP00000479015.1:n.*364del
NM_000118.3:c.*599del , LRG_589t1:c.*599del	NP_000109.1:n.*599del
NM_001114753.2:c.*364del , LRG_589t2:c.*364del	NP_001108225.1:n.*364del
NM_001278138.1:c.*364del	NP_001265067.1:n.*364del
NM_001114753.3:c.*364del MANE Select	NP_001108225.1:n.*364del
NM_001278138.2:c.*364del	NP_001265067.1:n.*364del