Canonical Allele Identifier: CA915947185

Gene: ENG

Linked Data

• ClinVar Variation Id: 645811
• ClinVar RCV Id: RCV000799971
• dbSNP Id: rs1588583530

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826545_127826548del , CM000671.2:g.127826545_127826548del	GRCh38
NC_000009.11:g.130588824_130588827del , CM000671.1:g.130588824_130588827del	GRCh37
NC_000009.10:g.129628645_129628648del	NCBI36
NG_009551.1:g.33224_33227del , LRG_589:g.33224_33227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-59_-56del	ENSP00000479015.1:n.-59_-56del
ENST00000373203.9:c.488_491del MANE Select	ENSP00000362299.4:p.Asn163ThrfsTer?
ENST00000344849.4:c.488_491del	ENSP00000341917.3:p.Asn163ThrfsTer?
ENST00000373203.8:c.488_491del	ENSP00000362299.4:p.Asn163ThrfsTer?
ENST00000462196.1:n.388_391del
ENST00000480266.5:c.-59_-56del	ENSP00000479015.1:n.-59_-56del
NM_000118.3:c.488_491del , LRG_589t1:c.488_491del	NP_000109.1:p.Asn163ThrfsTer?
NM_001114753.2:c.488_491del , LRG_589t2:c.488_491del	NP_001108225.1:p.Asn163ThrfsTer?
NM_001278138.1:c.-59_-56del	NP_001265067.1:n.-59_-56del
XR_001746952.2:n.82+1087_82+1090del
NM_001114753.3:c.488_491del MANE Select	NP_001108225.1:p.Asn163ThrfsTer?
NM_001278138.2:c.-59_-56del	NP_001265067.1:n.-59_-56del