Canonical Allele Identifier: CA658797290

Gene: ENG

Linked Data

• ClinVar Variation Id: 528070
• ClinVar RCV Id: RCV002233949
• dbSNP Id: rs1554809348
• MyVariant Identifiers: chr9:g.130581029dup (hg19) ; chr9:g.127818750dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818751dup , CM000671.2:g.127818751dup	GRCh38
NC_000009.11:g.130581030dup , CM000671.1:g.130581030dup	GRCh37
NC_000009.10:g.129620851dup	NCBI36
NG_009551.1:g.41019dup , LRG_589:g.41019dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.848dup	ENSP00000479015.1:p.Asn283LysfsTer?
ENST00000373203.9:c.1394dup MANE Select	ENSP00000362299.4:p.Asn465LysfsTer?
ENST00000344849.4:c.1394dup	ENSP00000341917.3:p.Asn465LysfsTer?
ENST00000373203.8:c.1394dup	ENSP00000362299.4:p.Asn465LysfsTer?
ENST00000480266.5:c.848dup	ENSP00000479015.1:p.Asn283LysfsTer?
NM_000118.3:c.1394dup , LRG_589t1:c.1394dup	NP_000109.1:p.Asn465LysfsTer?
NM_001114753.2:c.1394dup , LRG_589t2:c.1394dup	NP_001108225.1:p.Asn465LysfsTer?
NM_001278138.1:c.848dup	NP_001265067.1:p.Asn283LysfsTer?
NR_136302.1:n.1568+40dup
NM_001114753.3:c.1394dup MANE Select	NP_001108225.1:p.Asn465LysfsTer?
NM_001278138.2:c.848dup	NP_001265067.1:p.Asn283LysfsTer?