Canonical Allele Identifier: CA2580087981
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124147
ClinVar RCV Id: RCV003057015
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259230_24259239del , CM000676.2:g.24259230_24259239del GRCh38
NC_000014.8:g.24728436_24728445del , CM000676.1:g.24728436_24728445del GRCh37
NC_000014.7:g.23798276_23798285del NCBI36
NG_007150.1:g.8932_8941del
NG_007150.2:g.8932_8941del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.999_1008del MANE Select ENSP00000206765.6:p.Asp333GlufsTer3
ENST00000206765.10:c.999_1008del ENSP00000206765.6:p.Asp333GlufsTer3
ENST00000544573.5:c.-28-847_-28-838del ENSP00000439446.1:n.-28-847_-28-838del
ENST00000559136.1:c.72_81del ENSP00000453337.1:p.Asp24GlufsTer3
NM_000359.2:c.999_1008del NP_000350.1:p.Asp333GlufsTer3
NM_000359.3:c.999_1008del MANE Select NP_000350.1:p.Asp333GlufsTer3
Search 100 bp 5'
Search 100 bp 3'