Canonical Allele Identifier: CA2580087977
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1724361
ClinVar RCV Id: RCV002309629
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259105del , CM000676.2:g.24259105del GRCh38
NC_000014.8:g.24728311del , CM000676.1:g.24728311del GRCh37
NC_000014.7:g.23798151del NCBI36
NG_007150.1:g.9062del
NG_007150.2:g.9062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1129del MANE Select ENSP00000206765.6:p.Cys377AlafsTer7
ENST00000206765.10:c.1129del ENSP00000206765.6:p.Cys377AlafsTer7
ENST00000544573.5:c.-28-717del ENSP00000439446.1:n.-28-717del
ENST00000559136.1:c.202del ENSP00000453337.1:p.Cys68AlafsTer7
NM_000359.2:c.1129del NP_000350.1:p.Cys377AlafsTer7
NM_000359.3:c.1129del MANE Select NP_000350.1:p.Cys377AlafsTer7
Search 100 bp 5'
Search 100 bp 3'