Canonical Allele Identifier: CA2800897370
Gene: TGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259625_24259633del , CM000676.2:g.24259625_24259633del GRCh38
NC_000014.8:g.24728831_24728839del , CM000676.1:g.24728831_24728839del GRCh37
NC_000014.7:g.23798671_23798679del NCBI36
NG_007150.1:g.8537_8545del
NG_007150.2:g.8537_8545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.984+74_984+82del MANE Select ENSP00000206765.6:n.984+74_984+82del
ENST00000206765.10:c.984+74_984+82del ENSP00000206765.6:n.984+74_984+82del
ENST00000544573.5:c.-28-1242_-28-1234del ENSP00000439446.1:n.-28-1242_-28-1234del
ENST00000559136.1:c.57+74_57+82del ENSP00000453337.1:n.57+74_57+82del
NM_000359.2:c.984+74_984+82del NP_000350.1:n.984+74_984+82del
NM_000359.3:c.984+74_984+82del MANE Select NP_000350.1:n.984+74_984+82del