Canonical Allele Identifier: CA2695219178

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259216del , CM000676.2:g.24259216del	GRCh38
NC_000014.8:g.24728422del , CM000676.1:g.24728422del	GRCh37
NC_000014.7:g.23798262del	NCBI36
NG_007150.1:g.8953del
NG_007150.2:g.8953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1020del MANE Select	ENSP00000206765.6:p.Asn341ThrfsTer?
ENST00000206765.10:c.1020del	ENSP00000206765.6:p.Asn341ThrfsTer?
ENST00000544573.5:c.-28-826del	ENSP00000439446.1:n.-28-826del
ENST00000559136.1:c.93del	ENSP00000453337.1:p.Asn32ThrfsTer?
NM_000359.2:c.1020del	NP_000350.1:p.Asn341ThrfsTer?
NM_000359.3:c.1020del MANE Select	NP_000350.1:p.Asn341ThrfsTer?