Canonical Allele Identifier: CA2800897261
Gene: TGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255861_24255864del , CM000676.2:g.24255861_24255864del GRCh38
NC_000014.8:g.24725067_24725070del , CM000676.1:g.24725067_24725070del GRCh37
NC_000014.7:g.23794907_23794910del NCBI36
NG_007150.1:g.12303_12306del
NG_007150.2:g.12303_12306del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+125_1491+128del MANE Select ENSP00000206765.6:n.1491+125_1491+128del
ENST00000206765.10:c.1491+125_1491+128del ENSP00000206765.6:n.1491+125_1491+128del
ENST00000544573.5:c.165+125_165+128del ENSP00000439446.1:n.165+125_165+128del
ENST00000559136.1:c.564+125_564+128del ENSP00000453337.1:n.564+125_564+128del
NM_000359.2:c.1491+125_1491+128del NP_000350.1:n.1491+125_1491+128del
NM_000359.3:c.1491+125_1491+128del MANE Select NP_000350.1:n.1491+125_1491+128del