Canonical Allele Identifier: CA2740097727
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3005658
ClinVar RCV Id: RCV003863745
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259101_24259104dup , CM000676.2:g.24259101_24259104dup GRCh38
NC_000014.8:g.24728307_24728310dup , CM000676.1:g.24728307_24728310dup GRCh37
NC_000014.7:g.23798147_23798150dup NCBI36
NG_007150.1:g.9064_9067dup
NG_007150.2:g.9064_9067dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1131_1134dup MANE Select ENSP00000206765.6:p.Val379LeufsTer?
ENST00000206765.10:c.1131_1134dup ENSP00000206765.6:p.Val379LeufsTer?
ENST00000544573.5:c.-28-715_-28-712dup ENSP00000439446.1:n.-28-715_-28-712dup
ENST00000559136.1:c.204_207dup ENSP00000453337.1:p.Val70LeufsTer?
NM_000359.2:c.1131_1134dup NP_000350.1:p.Val379LeufsTer?
NM_000359.3:c.1131_1134dup MANE Select NP_000350.1:p.Val379LeufsTer?
Search 100 bp 5'
Search 100 bp 3'