Canonical Allele Identifier: CA2215863745
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1961911558

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845293_28845294del , CM000678.2:g.28845293_28845294del GRCh38
NC_000016.9:g.28856614_28856615del , CM000678.1:g.28856614_28856615del GRCh37
NC_000016.8:g.28764115_28764116del NCBI36
NG_008964.1:g.6115_6116del
NG_029706.2:g.3694_3695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.414+20_414+21del MANE Select ENSP00000322439.3:n.414+20_414+21del
ENST00000313511.7:c.414+20_414+21del ENSP00000322439.3:n.414+20_414+21del
ENST00000565012.1:c.248-239_248-238del ENSP00000455007.1:n.248-239_248-238del
NM_003321.4:c.414+20_414+21del NP_003312.3:n.414+20_414+21del
XM_011545928.1:c.414+20_414+21del XP_011544230.1:n.414+20_414+21del
NM_001365360.1:c.414+20_414+21del NP_001352289.1:n.414+20_414+21del
NM_003321.5:c.414+20_414+21del MANE Select NP_003312.3:n.414+20_414+21del
NM_001365360.2:c.414+20_414+21del NP_001352289.1:n.414+20_414+21del