Canonical Allele Identifier: CA2123832016

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24255872_24255888delinsCTGACTTGTATAATGAG , CM000676.2:g.24255872_24255888delinsCTGACTTGTATAATGAG	GRCh38
NC_000014.8:g.24725078_24725094delinsCTGACTTGTATAATGAG , CM000676.1:g.24725078_24725094delinsCTGACTTGTATAATGAG	GRCh37
NC_000014.7:g.23794918_23794934delinsCTGACTTGTATAATGAG	NCBI36
NG_007150.1:g.12279_12295delinsCTCATTATACAAGTCAG
NG_007150.2:g.12279_12295delinsCTCATTATACAAGTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1491+101_1491+117delinsCTCATTATACAAGTCAG MANE Select	ENSP00000206765.6:n.1491+101_1491+117delinsCTCATTATACAAGTCAG
ENST00000206765.10:c.1491+101_1491+117delinsCTCATTATACAAGTCAG	ENSP00000206765.6:n.1491+101_1491+117delinsCTCATTATACAAGTCAG
ENST00000544573.5:c.165+101_165+117delinsCTCATTATACAAGTCAG	ENSP00000439446.1:n.165+101_165+117delinsCTCATTATACAAGTCAG
ENST00000559136.1:c.564+101_564+117delinsCTCATTATACAAGTCAG	ENSP00000453337.1:n.564+101_564+117delinsCTCATTATACAAGTCAG
NM_000359.2:c.1491+101_1491+117delinsCTCATTATACAAGTCAG	NP_000350.1:n.1491+101_1491+117delinsCTCATTATACAAGTCAG
NM_000359.3:c.1491+101_1491+117delinsCTCATTATACAAGTCAG MANE Select	NP_000350.1:n.1491+101_1491+117delinsCTCATTATACAAGTCAG