Canonical Allele Identifier: CA2624346244

Gene: TGM1

Linked Data

• gnomAD v4: 14-24259209-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259210del , CM000676.2:g.24259210del	GRCh38
NC_000014.8:g.24728416del , CM000676.1:g.24728416del	GRCh37
NC_000014.7:g.23798256del	NCBI36
NG_007150.1:g.8957del
NG_007150.2:g.8957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1024del MANE Select	ENSP00000206765.6:p.Trp342GlyfsTer?
ENST00000206765.10:c.1024del	ENSP00000206765.6:p.Trp342GlyfsTer?
ENST00000544573.5:c.-28-822del	ENSP00000439446.1:n.-28-822del
ENST00000559136.1:c.97del	ENSP00000453337.1:p.Trp33GlyfsTer?
NM_000359.2:c.1024del	NP_000350.1:p.Trp342GlyfsTer?
NM_000359.3:c.1024del MANE Select	NP_000350.1:p.Trp342GlyfsTer?