Canonical Allele Identifier: CA2573143984

Gene: ENG

Linked Data

• ClinVar Variation Id: 1369615
• ClinVar RCV Id: RCV001894937
• dbSNP Id: rs2131879220

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819965dup , CM000671.2:g.127819965dup	GRCh38
NC_000009.11:g.130582244dup , CM000671.1:g.130582244dup	GRCh37
NC_000009.10:g.129622065dup	NCBI36
NG_009551.1:g.39806dup , LRG_589:g.39806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.663dup	ENSP00000479015.1:p.Val222CysfsTer21
ENST00000373203.9:c.1209dup MANE Select	ENSP00000362299.4:p.Val404CysfsTer21
ENST00000344849.4:c.1209dup	ENSP00000341917.3:p.Val404CysfsTer21
ENST00000373203.8:c.1209dup	ENSP00000362299.4:p.Val404CysfsTer21
ENST00000480266.5:c.663dup	ENSP00000479015.1:p.Val222CysfsTer21
ENST00000486329.1:n.177dup
NM_000118.3:c.1209dup , LRG_589t1:c.1209dup	NP_000109.1:p.Val404CysfsTer21
NM_001114753.2:c.1209dup , LRG_589t2:c.1209dup	NP_001108225.1:p.Val404CysfsTer21
NM_001278138.1:c.663dup	NP_001265067.1:p.Val222CysfsTer21
NR_136302.1:n.1569-1230dup
NM_001114753.3:c.1209dup MANE Select	NP_001108225.1:p.Val404CysfsTer21
NM_001278138.2:c.663dup	NP_001265067.1:p.Val222CysfsTer21