Canonical Allele Identifier: CA2123854731

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259440_24259442delinsGAC , CM000676.2:g.24259440_24259442delinsGAC	GRCh38
NC_000014.8:g.24728646_24728648delinsGAC , CM000676.1:g.24728646_24728648delinsGAC	GRCh37
NC_000014.7:g.23798486_23798488delinsGAC	NCBI36
NG_007150.1:g.8725_8727delinsGTC
NG_007150.2:g.8725_8727delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.985-193_985-191delinsGTC MANE Select	ENSP00000206765.6:n.985-193_985-191delinsGTC
ENST00000206765.10:c.985-193_985-191delinsGTC	ENSP00000206765.6:n.985-193_985-191delinsGTC
ENST00000544573.5:c.-28-1054_-28-1052delinsGTC	ENSP00000439446.1:n.-28-1054_-28-1052delinsGTC
ENST00000559136.1:c.58-193_58-191delinsGTC	ENSP00000453337.1:n.58-193_58-191delinsGTC
NM_000359.2:c.985-193_985-191delinsGTC	NP_000350.1:n.985-193_985-191delinsGTC
NM_000359.3:c.985-193_985-191delinsGTC MANE Select	NP_000350.1:n.985-193_985-191delinsGTC