Canonical Allele Identifier: CA2123832567
Gene: TGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256063_24256066delinsCGCA , CM000676.2:g.24256063_24256066delinsCGCA GRCh38
NC_000014.8:g.24725269_24725272delinsCGCA , CM000676.1:g.24725269_24725272delinsCGCA GRCh37
NC_000014.7:g.23795109_23795112delinsCGCA NCBI36
NG_007150.1:g.12101_12104delinsTGCG
NG_007150.2:g.12101_12104delinsTGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1414_1417delinsTGCG MANE Select ENSP00000206765.6:p.Cys472=
ENST00000206765.10:c.1414_1417delinsTGCG ENSP00000206765.6:p.Cys472=
ENST00000544573.5:c.88_91delinsTGCG ENSP00000439446.1:p.Cys30=
ENST00000559136.1:c.487_490delinsTGCG ENSP00000453337.1:p.Cys163=
NM_000359.2:c.1414_1417delinsTGCG NP_000350.1:p.Cys472=
NM_000359.3:c.1414_1417delinsTGCG MANE Select NP_000350.1:p.Cys472=
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