Canonical Allele Identifier: CA2573053882

Gene: TGM1

Linked Data

• dbSNP Id: rs2139024222

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259144_24259148del , CM000676.2:g.24259144_24259148del	GRCh38
NC_000014.8:g.24728350_24728354del , CM000676.1:g.24728350_24728354del	GRCh37
NC_000014.7:g.23798190_23798194del	NCBI36
NG_007150.1:g.9022_9026del
NG_007150.2:g.9022_9026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1089_1093del MANE Select	ENSP00000206765.6:p.Ser364ProfsTer?
ENST00000206765.10:c.1089_1093del	ENSP00000206765.6:p.Ser364ProfsTer?
ENST00000544573.5:c.-28-757_-28-753del	ENSP00000439446.1:n.-28-757_-28-753del
ENST00000559136.1:c.162_166del	ENSP00000453337.1:p.Ser55ProfsTer?
NM_000359.2:c.1089_1093del	NP_000350.1:p.Ser364ProfsTer?
NM_000359.3:c.1089_1093del MANE Select	NP_000350.1:p.Ser364ProfsTer?