Canonical Allele Identifier: CA2580087979
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1726211
ClinVar RCV Id: RCV002307182
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259143_24259144del , CM000676.2:g.24259143_24259144del GRCh38
NC_000014.8:g.24728349_24728350del , CM000676.1:g.24728349_24728350del GRCh37
NC_000014.7:g.23798189_23798190del NCBI36
NG_007150.1:g.9023_9024del
NG_007150.2:g.9023_9024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1090_1091del MANE Select ENSP00000206765.6:p.Ser364LeufsTer?
ENST00000206765.10:c.1090_1091del ENSP00000206765.6:p.Ser364LeufsTer?
ENST00000544573.5:c.-28-756_-28-755del ENSP00000439446.1:n.-28-756_-28-755del
ENST00000559136.1:c.163_164del ENSP00000453337.1:p.Ser55LeufsTer?
NM_000359.2:c.1090_1091del NP_000350.1:p.Ser364LeufsTer?
NM_000359.3:c.1090_1091del MANE Select NP_000350.1:p.Ser364LeufsTer?
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