Canonical Allele Identifier: CA658656032

Gene: ENG

Linked Data

• ClinVar Variation Id: 478821
• ClinVar RCV Id: RCV000535261
• dbSNP Id: rs1554810066
• MyVariant Identifiers: chr9:g.130586693_130586702del (hg19) ; chr9:g.127824414_127824423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824416_127824425del , CM000671.2:g.127824416_127824425del	GRCh38
NC_000009.11:g.130586695_130586704del , CM000671.1:g.130586695_130586704del	GRCh37
NC_000009.10:g.129626516_129626525del	NCBI36
NG_009551.1:g.35346_35355del , LRG_589:g.35346_35355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.469_478del	ENSP00000479015.1:p.Ala157ArgfsTer17
ENST00000373203.9:c.1015_1024del MANE Select	ENSP00000362299.4:p.Ala339ArgfsTer17
ENST00000344849.4:c.1015_1024del	ENSP00000341917.3:p.Ala339ArgfsTer17
ENST00000373203.8:c.1015_1024del	ENSP00000362299.4:p.Ala339ArgfsTer17
ENST00000480266.5:c.469_478del	ENSP00000479015.1:p.Ala157ArgfsTer17
NM_000118.3:c.1015_1024del , LRG_589t1:c.1015_1024del	NP_000109.1:p.Ala339ArgfsTer17
NM_001114753.2:c.1015_1024del , LRG_589t2:c.1015_1024del	NP_001108225.1:p.Ala339ArgfsTer17
NM_001278138.1:c.469_478del	NP_001265067.1:p.Ala157ArgfsTer17
NM_001114753.3:c.1015_1024del MANE Select	NP_001108225.1:p.Ala339ArgfsTer17
NM_001278138.2:c.469_478del	NP_001265067.1:p.Ala157ArgfsTer17