Canonical Allele Identifier: CA321624

Gene: ENG

Linked Data

• ClinVar Variation Id: 213215
• ClinVar RCV Id: RCV000197179 ; RCV002517174
• dbSNP Id: rs863223541
• MyVariant Identifiers: chr9:g.130580534_130580535del (hg19) ; chr9:g.127818255_127818256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818259_127818260del , CM000671.2:g.127818259_127818260del	GRCh38
NC_000009.11:g.130580538_130580539del , CM000671.1:g.130580538_130580539del	GRCh37
NC_000009.10:g.129620359_129620360del	NCBI36
NG_009551.1:g.41513_41514del , LRG_589:g.41513_41514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1004_1005del	ENSP00000479015.1:p.Val335GlufsTer10
ENST00000373203.9:c.1550_1551del MANE Select	ENSP00000362299.4:p.Val517GlufsTer10
ENST00000344849.4:c.1550_1551del	ENSP00000341917.3:p.Val517GlufsTer10
ENST00000373203.8:c.1550_1551del	ENSP00000362299.4:p.Val517GlufsTer10
ENST00000480266.5:c.1004_1005del	ENSP00000479015.1:p.Val335GlufsTer10
NM_000118.3:c.1550_1551del , LRG_589t1:c.1550_1551del	NP_000109.1:p.Val517GlufsTer10
NM_001114753.2:c.1550_1551del , LRG_589t2:c.1550_1551del	NP_001108225.1:p.Val517GlufsTer10
NM_001278138.1:c.1004_1005del	NP_001265067.1:p.Val335GlufsTer10
NR_136302.1:n.1378-52_1378-51del
NM_001114753.3:c.1550_1551del MANE Select	NP_001108225.1:p.Val517GlufsTer10
NM_001278138.2:c.1004_1005del	NP_001265067.1:p.Val335GlufsTer10