Canonical Allele Identifier: CA2697553835
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2715113
ClinVar RCV Id: RCV003553136
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256051_24256052del , CM000676.2:g.24256051_24256052del GRCh38
NC_000014.8:g.24725257_24725258del , CM000676.1:g.24725257_24725258del GRCh37
NC_000014.7:g.23795097_23795098del NCBI36
NG_007150.1:g.12117_12118del
NG_007150.2:g.12117_12118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1430_1431del MANE Select ENSP00000206765.6:p.Val477GlyfsTer20
ENST00000206765.10:c.1430_1431del ENSP00000206765.6:p.Val477GlyfsTer20
ENST00000544573.5:c.104_105del ENSP00000439446.1:p.Val35GlyfsTer20
ENST00000559136.1:c.503_504del ENSP00000453337.1:p.Val168GlyfsTer20
NM_000359.2:c.1430_1431del NP_000350.1:p.Val477GlyfsTer20
NM_000359.3:c.1430_1431del MANE Select NP_000350.1:p.Val477GlyfsTer20
Search 100 bp 5'
Search 100 bp 3'