Canonical Allele Identifier: CA2123854568
Gene: TGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259102_24259108delinsAGCACTG , CM000676.2:g.24259102_24259108delinsAGCACTG GRCh38
NC_000014.8:g.24728308_24728314delinsAGCACTG , CM000676.1:g.24728308_24728314delinsAGCACTG GRCh37
NC_000014.7:g.23798148_23798154delinsAGCACTG NCBI36
NG_007150.1:g.9059_9065delinsCAGTGCT
NG_007150.2:g.9059_9065delinsCAGTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1126_1132delinsCAGTGCT MANE Select ENSP00000206765.6:p.Gln376=
ENST00000206765.10:c.1126_1132delinsCAGTGCT ENSP00000206765.6:p.Gln376=
ENST00000544573.5:c.-28-720_-28-714delinsCAGTGCT ENSP00000439446.1:n.-28-720_-28-714delinsCAGTGCT
ENST00000559136.1:c.199_205delinsCAGTGCT ENSP00000453337.1:p.Gln67=
NM_000359.2:c.1126_1132delinsCAGTGCT NP_000350.1:p.Gln376=
NM_000359.3:c.1126_1132delinsCAGTGCT MANE Select NP_000350.1:p.Gln376=
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