Canonical Allele Identifier: CA961133438
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs2040788349
gnomAD v3: 14-24259631-CAGG-C
gnomAD v4: 14-24259631-CAGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259638_24259640del , CM000676.2:g.24259638_24259640del GRCh38
NC_000014.8:g.24728844_24728846del , CM000676.1:g.24728844_24728846del GRCh37
NC_000014.7:g.23798684_23798686del NCBI36
NG_007150.1:g.8533_8535del
NG_007150.2:g.8533_8535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.984+70_984+72del MANE Select ENSP00000206765.6:n.984+70_984+72del
ENST00000206765.10:c.984+70_984+72del ENSP00000206765.6:n.984+70_984+72del
ENST00000544573.5:c.-28-1246_-28-1244del ENSP00000439446.1:n.-28-1246_-28-1244del
ENST00000559136.1:c.57+70_57+72del ENSP00000453337.1:n.57+70_57+72del
NM_000359.2:c.984+70_984+72del NP_000350.1:n.984+70_984+72del
NM_000359.3:c.984+70_984+72del MANE Select NP_000350.1:n.984+70_984+72del
Search 100 bp 5'
Search 100 bp 3'