Canonical Allele Identifier: CA2215863896
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1961914073

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845358_28845383del , CM000678.2:g.28845358_28845383del GRCh38
NC_000016.9:g.28856679_28856704del , CM000678.1:g.28856679_28856704del GRCh37
NC_000016.8:g.28764180_28764205del NCBI36
NG_008964.1:g.6026_6051del
NG_029706.2:g.3759_3784del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.345_370del MANE Select ENSP00000322439.3:p.His115GlnfsTer15
ENST00000313511.7:c.345_370del ENSP00000322439.3:p.His115GlnfsTer15
ENST00000565012.1:c.248-328_248-303del ENSP00000455007.1:n.248-328_248-303del
NM_003321.4:c.345_370del NP_003312.3:p.His115GlnfsTer15
XM_011545928.1:c.345_370del XP_011544230.1:p.His115GlnfsTer15
NM_001365360.1:c.345_370del NP_001352289.1:p.His115GlnfsTer15
NM_003321.5:c.345_370del MANE Select NP_003312.3:p.His115GlnfsTer15
NM_001365360.2:c.345_370del NP_001352289.1:p.His115GlnfsTer15