Canonical Allele Identifier: CA2580616313

Gene: ENG

Linked Data

• ClinVar Variation Id: 2180401
• ClinVar RCV Id: RCV002619236 ; RCV003481397
• gnomAD v4: 9-127824904-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824909_127824910del , CM000671.2:g.127824909_127824910del	GRCh38
NC_000009.11:g.130587188_130587189del , CM000671.1:g.130587188_130587189del	GRCh37
NC_000009.10:g.129627009_129627010del	NCBI36
NG_009551.1:g.34863_34864del , LRG_589:g.34863_34864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.339_340del	ENSP00000479015.1:p.Pro114SerfsTer?
ENST00000373203.9:c.885_886del MANE Select	ENSP00000362299.4:p.Pro296SerfsTer?
ENST00000344849.4:c.885_886del	ENSP00000341917.3:p.Pro296SerfsTer?
ENST00000373203.8:c.885_886del	ENSP00000362299.4:p.Pro296SerfsTer?
ENST00000480266.5:c.339_340del	ENSP00000479015.1:p.Pro114SerfsTer?
NM_000118.3:c.885_886del , LRG_589t1:c.885_886del	NP_000109.1:p.Pro296SerfsTer?
NM_001114753.2:c.885_886del , LRG_589t2:c.885_886del	NP_001108225.1:p.Pro296SerfsTer?
NM_001278138.1:c.339_340del	NP_001265067.1:p.Pro114SerfsTer?
NM_001114753.3:c.885_886del MANE Select	NP_001108225.1:p.Pro296SerfsTer?
NM_001278138.2:c.339_340del	NP_001265067.1:p.Pro114SerfsTer?