Canonical Allele Identifier: CA2580079624

Gene: ENG

Linked Data

• ClinVar Variation Id: 1783373
• ClinVar RCV Id: RCV002421682

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824358_127824367dup , CM000671.2:g.127824358_127824367dup	GRCh38
NC_000009.11:g.130586637_130586646dup , CM000671.1:g.130586637_130586646dup	GRCh37
NC_000009.10:g.129626458_129626467dup	NCBI36
NG_009551.1:g.35402_35411dup , LRG_589:g.35402_35411dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.525_534dup	ENSP00000479015.1:p.Thr179LeufsTer?
ENST00000373203.9:c.1071_1080dup MANE Select	ENSP00000362299.4:p.Thr361LeufsTer?
ENST00000344849.4:c.1071_1080dup	ENSP00000341917.3:p.Thr361LeufsTer?
ENST00000373203.8:c.1071_1080dup	ENSP00000362299.4:p.Thr361LeufsTer?
ENST00000480266.5:c.525_534dup	ENSP00000479015.1:p.Thr179LeufsTer?
ENST00000486329.1:n.39_48dup
NM_000118.3:c.1071_1080dup , LRG_589t1:c.1071_1080dup	NP_000109.1:p.Thr361LeufsTer?
NM_001114753.2:c.1071_1080dup , LRG_589t2:c.1071_1080dup	NP_001108225.1:p.Thr361LeufsTer?
NM_001278138.1:c.525_534dup	NP_001265067.1:p.Thr179LeufsTer?
NM_001114753.3:c.1071_1080dup MANE Select	NP_001108225.1:p.Thr361LeufsTer?
NM_001278138.2:c.525_534dup	NP_001265067.1:p.Thr179LeufsTer?