Canonical Allele Identifier: CA2624346242
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24259163-GCCCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259169_24259172del , CM000676.2:g.24259169_24259172del GRCh38
NC_000014.8:g.24728375_24728378del , CM000676.1:g.24728375_24728378del GRCh37
NC_000014.7:g.23798215_23798218del NCBI36
NG_007150.1:g.9000_9003del
NG_007150.2:g.9000_9003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1067_1070del MANE Select ENSP00000206765.6:p.Val356AlafsTer27
ENST00000206765.10:c.1067_1070del ENSP00000206765.6:p.Val356AlafsTer27
ENST00000544573.5:c.-28-779_-28-776del ENSP00000439446.1:n.-28-779_-28-776del
ENST00000559136.1:c.140_143del ENSP00000453337.1:p.Val47AlafsTer27
NM_000359.2:c.1067_1070del NP_000350.1:p.Val356AlafsTer27
NM_000359.3:c.1067_1070del MANE Select NP_000350.1:p.Val356AlafsTer27
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