Canonical Allele Identifier: CA2695211328

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826640_127826641del , CM000671.2:g.127826640_127826641del	GRCh38
NC_000009.11:g.130588919_130588920del , CM000671.1:g.130588919_130588920del	GRCh37
NC_000009.10:g.129628740_129628741del	NCBI36
NG_009551.1:g.33128_33129del , LRG_589:g.33128_33129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-155_-154del	ENSP00000479015.1:n.-155_-154del
ENST00000373203.9:c.392_393del MANE Select	ENSP00000362299.4:p.Pro131ArgfsTer17
ENST00000344849.4:c.392_393del	ENSP00000341917.3:p.Pro131ArgfsTer17
ENST00000373203.8:c.392_393del	ENSP00000362299.4:p.Pro131ArgfsTer17
ENST00000462196.1:n.292_293del
ENST00000480266.5:c.-155_-154del	ENSP00000479015.1:n.-155_-154del
NM_000118.3:c.392_393del , LRG_589t1:c.392_393del	NP_000109.1:p.Pro131ArgfsTer17
NM_001114753.2:c.392_393del , LRG_589t2:c.392_393del	NP_001108225.1:p.Pro131ArgfsTer17
NM_001278138.1:c.-155_-154del	NP_001265067.1:n.-155_-154del
XR_001746952.2:n.82+1182_82+1183del
NM_001114753.3:c.392_393del MANE Select	NP_001108225.1:p.Pro131ArgfsTer17
NM_001278138.2:c.-155_-154del	NP_001265067.1:n.-155_-154del