Canonical Allele Identifier: CA2695219175
Gene: TGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259164_24259176del , CM000676.2:g.24259164_24259176del GRCh38
NC_000014.8:g.24728370_24728382del , CM000676.1:g.24728370_24728382del GRCh37
NC_000014.7:g.23798210_23798222del NCBI36
NG_007150.1:g.8999_9011del
NG_007150.2:g.8999_9011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1066_1078del MANE Select ENSP00000206765.6:p.Val356ArgfsTer24
ENST00000206765.10:c.1066_1078del ENSP00000206765.6:p.Val356ArgfsTer24
ENST00000544573.5:c.-28-780_-28-768del ENSP00000439446.1:n.-28-780_-28-768del
ENST00000559136.1:c.139_151del ENSP00000453337.1:p.Val47ArgfsTer24
NM_000359.2:c.1066_1078del NP_000350.1:p.Val356ArgfsTer24
NM_000359.3:c.1066_1078del MANE Select NP_000350.1:p.Val356ArgfsTer24
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