Canonical Allele Identifier: CA2695219159
Gene: TGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256058_24256059insT , CM000676.2:g.24256058_24256059insT GRCh38
NC_000014.8:g.24725264_24725265insT , CM000676.1:g.24725264_24725265insT GRCh37
NC_000014.7:g.23795104_23795105insT NCBI36
NG_007150.1:g.12108_12109insA
NG_007150.2:g.12108_12109insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1421_1422insA MANE Select ENSP00000206765.6:p.Cys475LeufsTer23
ENST00000206765.10:c.1421_1422insA ENSP00000206765.6:p.Cys475LeufsTer23
ENST00000544573.5:c.95_96insA ENSP00000439446.1:p.Cys33LeufsTer23
ENST00000559136.1:c.494_495insA ENSP00000453337.1:p.Cys166LeufsTer23
NM_000359.2:c.1421_1422insA NP_000350.1:p.Cys475LeufsTer23
NM_000359.3:c.1421_1422insA MANE Select NP_000350.1:p.Cys475LeufsTer23
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