Canonical Allele Identifier: CA2580079642

Gene: ENG

Linked Data

• ClinVar Variation Id: 2094395
• ClinVar RCV Id: RCV003010274

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824917_127824919delinsA , CM000671.2:g.127824917_127824919delinsA	GRCh38
NC_000009.11:g.130587196_130587198delinsA , CM000671.1:g.130587196_130587198delinsA	GRCh37
NC_000009.10:g.129627017_129627019delinsA	NCBI36
NG_009551.1:g.34850_34852delinsT , LRG_589:g.34850_34852delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.326_328delinsT	ENSP00000479015.1:p.Lys109IlefsTer?
ENST00000373203.9:c.872_874delinsT MANE Select	ENSP00000362299.4:p.Lys291IlefsTer?
ENST00000344849.4:c.872_874delinsT	ENSP00000341917.3:p.Lys291IlefsTer?
ENST00000373203.8:c.872_874delinsT	ENSP00000362299.4:p.Lys291IlefsTer?
ENST00000480266.5:c.326_328delinsT	ENSP00000479015.1:p.Lys109IlefsTer?
NM_000118.3:c.872_874delinsT , LRG_589t1:c.872_874delinsT	NP_000109.1:p.Lys291IlefsTer?
NM_001114753.2:c.872_874delinsT , LRG_589t2:c.872_874delinsT	NP_001108225.1:p.Lys291IlefsTer?
NM_001278138.1:c.326_328delinsT	NP_001265067.1:p.Lys109IlefsTer?
NM_001114753.3:c.872_874delinsT MANE Select	NP_001108225.1:p.Lys291IlefsTer?
NM_001278138.2:c.326_328delinsT	NP_001265067.1:p.Lys109IlefsTer?