Canonical Allele Identifier: CA2580087961
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1726190
ClinVar RCV Id: RCV002307161
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256049_24256051delinsAG , CM000676.2:g.24256049_24256051delinsAG GRCh38
NC_000014.8:g.24725255_24725257delinsAG , CM000676.1:g.24725255_24725257delinsAG GRCh37
NC_000014.7:g.23795095_23795097delinsAG NCBI36
NG_007150.1:g.12116_12118delinsCT
NG_007150.2:g.12116_12118delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1429_1431delinsCT MANE Select ENSP00000206765.6:p.Val477LeufsTer11
ENST00000206765.10:c.1429_1431delinsCT ENSP00000206765.6:p.Val477LeufsTer11
ENST00000544573.5:c.103_105delinsCT ENSP00000439446.1:p.Val35LeufsTer11
ENST00000559136.1:c.502_504delinsCT ENSP00000453337.1:p.Val168LeufsTer11
NM_000359.2:c.1429_1431delinsCT NP_000350.1:p.Val477LeufsTer11
NM_000359.3:c.1429_1431delinsCT MANE Select NP_000350.1:p.Val477LeufsTer11
Search 100 bp 5'
Search 100 bp 3'