Canonical Allele Identifier: CA2580079619

Gene: ENG

Linked Data

• ClinVar Variation Id: 1793310
• ClinVar RCV Id: RCV002452797

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824334del , CM000671.2:g.127824334del	GRCh38
NC_000009.11:g.130586613del , CM000671.1:g.130586613del	GRCh37
NC_000009.10:g.129626434del	NCBI36
NG_009551.1:g.35435del , LRG_589:g.35435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.558del	ENSP00000479015.1:p.Met186IlefsTer5
ENST00000373203.9:c.1104del MANE Select	ENSP00000362299.4:p.Met368IlefsTer5
ENST00000344849.4:c.1104del	ENSP00000341917.3:p.Met368IlefsTer5
ENST00000373203.8:c.1104del	ENSP00000362299.4:p.Met368IlefsTer5
ENST00000480266.5:c.558del	ENSP00000479015.1:p.Met186IlefsTer5
ENST00000486329.1:n.72del
NM_000118.3:c.1104del , LRG_589t1:c.1104del	NP_000109.1:p.Met368IlefsTer5
NM_001114753.2:c.1104del , LRG_589t2:c.1104del	NP_001108225.1:p.Met368IlefsTer5
NM_001278138.1:c.558del	NP_001265067.1:p.Met186IlefsTer5
NM_001114753.3:c.1104del MANE Select	NP_001108225.1:p.Met368IlefsTer5
NM_001278138.2:c.558del	NP_001265067.1:p.Met186IlefsTer5