Canonical Allele Identifier: CA645369413

Gene: ENG

Linked Data

• ClinVar Variation Id: 429506
• ClinVar RCV Id: RCV000494067 ; RCV001002195 ; RCV001385796 ; RCV003392321
• dbSNP Id: rs1131691422
• MyVariant Identifiers: chr9:g.130582255_130582256del (hg19) ; chr9:g.127819976_127819977del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819976_127819977del , CM000671.2:g.127819976_127819977del	GRCh38
NC_000009.11:g.130582255_130582256del , CM000671.1:g.130582255_130582256del	GRCh37
NC_000009.10:g.129622076_129622077del	NCBI36
NG_009551.1:g.39792_39793del , LRG_589:g.39792_39793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.649_650del	ENSP00000479015.1:p.Arg217GlyfsTer2
ENST00000373203.9:c.1195_1196del MANE Select	ENSP00000362299.4:p.Arg399GlyfsTer2
ENST00000344849.4:c.1195_1196del	ENSP00000341917.3:p.Arg399GlyfsTer2
ENST00000373203.8:c.1195_1196del	ENSP00000362299.4:p.Arg399GlyfsTer2
ENST00000480266.5:c.649_650del	ENSP00000479015.1:p.Arg217GlyfsTer2
ENST00000486329.1:n.163_164del
NM_000118.3:c.1195_1196del , LRG_589t1:c.1195_1196del	NP_000109.1:p.Arg399GlyfsTer2
NM_001114753.2:c.1195_1196del , LRG_589t2:c.1195_1196del	NP_001108225.1:p.Arg399GlyfsTer2
NM_001278138.1:c.649_650del	NP_001265067.1:p.Arg217GlyfsTer2
NR_136302.1:n.1569-1219_1569-1218del
NM_001114753.3:c.1195_1196del MANE Select	NP_001108225.1:p.Arg399GlyfsTer2
NM_001278138.2:c.649_650del	NP_001265067.1:p.Arg217GlyfsTer2