Canonical Allele Identifier: CA16619856
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420340
ClinVar RCV Id: RCV000485003
dbSNP Id: rs1064794422
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256064_24256073delinsACAGAGC , CM000676.2:g.24256064_24256073delinsACAGAGC GRCh38
NC_000014.8:g.24725270_24725279delinsACAGAGC , CM000676.1:g.24725270_24725279delinsACAGAGC GRCh37
NC_000014.7:g.23795110_23795119delinsACAGAGC NCBI36
NG_007150.1:g.12094_12103delinsGCTCTGT
NG_007150.2:g.12094_12103delinsGCTCTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.1407_1416delinsGCTCTGT MANE Select ENSP00000206765.6:p.Ile469_Cys471delinsMe...
ENST00000206765.10:c.1407_1416delinsGCTCTGT ENSP00000206765.6:p.Ile469_Cys471delinsMe...
ENST00000544573.5:c.81_90delinsGCTCTGT ENSP00000439446.1:p.Ile27_Cys29delinsMetL...
ENST00000559136.1:c.480_489delinsGCTCTGT ENSP00000453337.1:p.Ile160_Cys162delinsMe...
NM_000359.2:c.1407_1416delinsGCTCTGT NP_000350.1:p.Ile469_Cys471delinsMetLeu
NM_000359.3:c.1407_1416delinsGCTCTGT MANE Select NP_000350.1:p.Ile469_Cys471delinsMetLeu
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