Canonical Allele Identifier: CA2123832539
Gene: TGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256061_24256062delinsGC , CM000676.2:g.24256061_24256062delinsGC GRCh38
NC_000014.8:g.24725267_24725268delinsGC , CM000676.1:g.24725267_24725268delinsGC GRCh37
NC_000014.7:g.23795107_23795108delinsGC NCBI36
NG_007150.1:g.12105_12106delinsGC
NG_007150.2:g.12105_12106delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1418_1419delinsGC MANE Select ENSP00000206765.6:p.Gly473=
ENST00000206765.10:c.1418_1419delinsGC ENSP00000206765.6:p.Gly473=
ENST00000544573.5:c.92_93delinsGC ENSP00000439446.1:p.Gly31=
ENST00000559136.1:c.491_492delinsGC ENSP00000453337.1:p.Gly164=
NM_000359.2:c.1418_1419delinsGC NP_000350.1:p.Gly473=
NM_000359.3:c.1418_1419delinsGC MANE Select NP_000350.1:p.Gly473=
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