Canonical Allele Identifier: CA2580079588

Gene: ENG

Linked Data

• ClinVar Variation Id: 1793496
• ClinVar RCV Id: RCV002426133

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829789del , CM000671.2:g.127829789del	GRCh38
NC_000009.11:g.130592068del , CM000671.1:g.130592068del	GRCh37
NC_000009.10:g.129631889del	NCBI36
NG_009551.1:g.29980del , LRG_589:g.29980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-289del	ENSP00000479015.1:n.-289del
ENST00000373203.9:c.258del MANE Select	ENSP00000362299.4:p.Lys86AsnfsTer16
ENST00000344849.4:c.258del	ENSP00000341917.3:p.Lys86AsnfsTer16
ENST00000373203.8:c.258del	ENSP00000362299.4:p.Lys86AsnfsTer16
ENST00000462196.1:n.16del
ENST00000480266.5:c.-289del	ENSP00000479015.1:n.-289del
NM_000118.3:c.258del , LRG_589t1:c.258del	NP_000109.1:p.Lys86AsnfsTer16
NM_001114753.2:c.258del , LRG_589t2:c.258del	NP_001108225.1:p.Lys86AsnfsTer16
NM_001278138.1:c.-289del	NP_001265067.1:n.-289del
XR_001746952.2:n.83-2609del
NM_001114753.3:c.258del MANE Select	NP_001108225.1:p.Lys86AsnfsTer16
NM_001278138.2:c.-289del	NP_001265067.1:n.-289del