Canonical Allele Identifier: CA2695219177
Gene: TGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259160del , CM000676.2:g.24259160del GRCh38
NC_000014.8:g.24728366del , CM000676.1:g.24728366del GRCh37
NC_000014.7:g.23798206del NCBI36
NG_007150.1:g.9007del
NG_007150.2:g.9007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1074del MANE Select ENSP00000206765.6:p.Ser358ArgfsTer26
ENST00000206765.10:c.1074del ENSP00000206765.6:p.Ser358ArgfsTer26
ENST00000544573.5:c.-28-772del ENSP00000439446.1:n.-28-772del
ENST00000559136.1:c.147del ENSP00000453337.1:p.Ser49ArgfsTer26
NM_000359.2:c.1074del NP_000350.1:p.Ser358ArgfsTer26
NM_000359.3:c.1074del MANE Select NP_000350.1:p.Ser358ArgfsTer26