Canonical Allele Identifier: CA16612406

Gene: ENG

Linked Data

• ClinVar Variation Id: 407136
• ClinVar RCV Id: RCV002230340 ; RCV003480640
• dbSNP Id: rs1060501422
• COSMIC: COSM1460145 ; COSM5153885
• MyVariant Identifiers: chr9:g.130582252del (hg19) ; chr9:g.127819973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819976del , CM000671.2:g.127819976del	GRCh38
NC_000009.11:g.130582255del , CM000671.1:g.130582255del	GRCh37
NC_000009.10:g.129622076del	NCBI36
NG_009551.1:g.39796del , LRG_589:g.39796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.653del	ENSP00000479015.1:p.Gly218ValfsTer21
ENST00000373203.9:c.1199del MANE Select	ENSP00000362299.4:p.Gly400ValfsTer21
ENST00000344849.4:c.1199del	ENSP00000341917.3:p.Gly400ValfsTer21
ENST00000373203.8:c.1199del	ENSP00000362299.4:p.Gly400ValfsTer21
ENST00000480266.5:c.653del	ENSP00000479015.1:p.Gly218ValfsTer21
ENST00000486329.1:n.167del
NM_000118.3:c.1199del , LRG_589t1:c.1199del	NP_000109.1:p.Gly400ValfsTer21
NM_001114753.2:c.1199del , LRG_589t2:c.1199del	NP_001108225.1:p.Gly400ValfsTer21
NM_001278138.1:c.653del	NP_001265067.1:p.Gly218ValfsTer21
NR_136302.1:n.1569-1219del
NM_001114753.3:c.1199del MANE Select	NP_001108225.1:p.Gly400ValfsTer21
NM_001278138.2:c.653del	NP_001265067.1:p.Gly218ValfsTer21