Canonical Allele Identifier: CA2575493926
Gene: TGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24258976_24258982del , CM000676.2:g.24258976_24258982del GRCh38
NC_000014.8:g.24728182_24728188del , CM000676.1:g.24728182_24728188del GRCh37
NC_000014.7:g.23798022_23798028del NCBI36
NG_007150.1:g.9192_9198del
NG_007150.2:g.9192_9198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1159+100_1159+106del MANE Select ENSP00000206765.6:n.1159+100_1159+106del
ENST00000206765.10:c.1159+100_1159+106del ENSP00000206765.6:n.1159+100_1159+106del
ENST00000544573.5:c.-28-587_-28-581del ENSP00000439446.1:n.-28-587_-28-581del
ENST00000559136.1:c.232+100_232+106del ENSP00000453337.1:n.232+100_232+106del
NM_000359.2:c.1159+100_1159+106del NP_000350.1:n.1159+100_1159+106del
NM_000359.3:c.1159+100_1159+106del MANE Select NP_000350.1:n.1159+100_1159+106del