Canonical Allele Identifier: CA891842558

Gene: ENG

Linked Data

• ClinVar Variation Id: 579815
• ClinVar RCV Id: RCV002233393
• dbSNP Id: rs1564455604
• MyVariant Identifiers: chr9:g.130587152_130587159del (hg19) ; chr9:g.127824873_127824880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824874_127824881del , CM000671.2:g.127824874_127824881del	GRCh38
NC_000009.11:g.130587153_130587160del , CM000671.1:g.130587153_130587160del	GRCh37
NC_000009.10:g.129626974_129626981del	NCBI36
NG_009551.1:g.34889_34896del , LRG_589:g.34889_34896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.365_372del	ENSP00000479015.1:p.Arg122GlnfsTer27
ENST00000373203.9:c.911_918del MANE Select	ENSP00000362299.4:p.Arg304GlnfsTer27
ENST00000344849.4:c.911_918del	ENSP00000341917.3:p.Arg304GlnfsTer27
ENST00000373203.8:c.911_918del	ENSP00000362299.4:p.Arg304GlnfsTer27
ENST00000480266.5:c.365_372del	ENSP00000479015.1:p.Arg122GlnfsTer27
NM_000118.3:c.911_918del , LRG_589t1:c.911_918del	NP_000109.1:p.Arg304GlnfsTer27
NM_001114753.2:c.911_918del , LRG_589t2:c.911_918del	NP_001108225.1:p.Arg304GlnfsTer27
NM_001278138.1:c.365_372del	NP_001265067.1:p.Arg122GlnfsTer27
NM_001114753.3:c.911_918del MANE Select	NP_001108225.1:p.Arg304GlnfsTer27
NM_001278138.2:c.365_372del	NP_001265067.1:p.Arg122GlnfsTer27