Canonical Allele Identifier: CA658797297

Gene: ENG

Linked Data

• ClinVar Variation Id: 528051
• ClinVar RCV Id: RCV002233943 ; RCV003352949
• dbSNP Id: rs1554810932
• MyVariant Identifiers: chr9:g.130592102del (hg19) ; chr9:g.127829823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829825del , CM000671.2:g.127829825del	GRCh38
NC_000009.11:g.130592104del , CM000671.1:g.130592104del	GRCh37
NC_000009.10:g.129631925del	NCBI36
NG_009551.1:g.29946del , LRG_589:g.29946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-323del	ENSP00000479015.1:n.-323del
ENST00000373203.9:c.224del MANE Select	ENSP00000362299.4:p.Pro75ArgfsTer6
ENST00000344849.4:c.224del	ENSP00000341917.3:p.Pro75ArgfsTer6
ENST00000373203.8:c.224del	ENSP00000362299.4:p.Pro75ArgfsTer6
ENST00000480266.5:c.-323del	ENSP00000479015.1:n.-323del
NM_000118.3:c.224del , LRG_589t1:c.224del	NP_000109.1:p.Pro75ArgfsTer6
NM_001114753.2:c.224del , LRG_589t2:c.224del	NP_001108225.1:p.Pro75ArgfsTer6
NM_001278138.1:c.-323del	NP_001265067.1:n.-323del
XR_001746952.2:n.83-2573del
NM_001114753.3:c.224del MANE Select	NP_001108225.1:p.Pro75ArgfsTer6
NM_001278138.2:c.-323del	NP_001265067.1:n.-323del