Canonical Allele Identifier: CA2123854523

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259018_24259019delinsCT , CM000676.2:g.24259018_24259019delinsCT	GRCh38
NC_000014.8:g.24728224_24728225delinsCT , CM000676.1:g.24728224_24728225delinsCT	GRCh37
NC_000014.7:g.23798064_23798065delinsCT	NCBI36
NG_007150.1:g.9148_9149delinsAG
NG_007150.2:g.9148_9149delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1159+56_1159+57delinsAG MANE Select	ENSP00000206765.6:n.1159+56_1159+57delinsAG
ENST00000206765.10:c.1159+56_1159+57delinsAG	ENSP00000206765.6:n.1159+56_1159+57delinsAG
ENST00000544573.5:c.-28-631_-28-630delinsAG	ENSP00000439446.1:n.-28-631_-28-630delinsAG
ENST00000559136.1:c.232+56_232+57delinsAG	ENSP00000453337.1:n.232+56_232+57delinsAG
NM_000359.2:c.1159+56_1159+57delinsAG	NP_000350.1:n.1159+56_1159+57delinsAG
NM_000359.3:c.1159+56_1159+57delinsAG MANE Select	NP_000350.1:n.1159+56_1159+57delinsAG