Canonical Allele Identifier: CA2573143988

Gene: ENG

Linked Data

• ClinVar Variation Id: 1453053
• ClinVar RCV Id: RCV002000103
• dbSNP Id: rs2131885976

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824397del , CM000671.2:g.127824397del	GRCh38
NC_000009.11:g.130586676del , CM000671.1:g.130586676del	GRCh37
NC_000009.10:g.129626497del	NCBI36
NG_009551.1:g.35373del , LRG_589:g.35373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.496del	ENSP00000479015.1:p.Asp166ThrfsTer11
ENST00000373203.9:c.1042del MANE Select	ENSP00000362299.4:p.Asp348ThrfsTer11
ENST00000344849.4:c.1042del	ENSP00000341917.3:p.Asp348ThrfsTer11
ENST00000373203.8:c.1042del	ENSP00000362299.4:p.Asp348ThrfsTer11
ENST00000480266.5:c.496del	ENSP00000479015.1:p.Asp166ThrfsTer11
ENST00000486329.1:n.10del
NM_000118.3:c.1042del , LRG_589t1:c.1042del	NP_000109.1:p.Asp348ThrfsTer11
NM_001114753.2:c.1042del , LRG_589t2:c.1042del	NP_001108225.1:p.Asp348ThrfsTer11
NM_001278138.1:c.496del	NP_001265067.1:p.Asp166ThrfsTer11
NM_001114753.3:c.1042del MANE Select	NP_001108225.1:p.Asp348ThrfsTer11
NM_001278138.2:c.496del	NP_001265067.1:p.Asp166ThrfsTer11