Canonical Allele Identifier: CA2806422078
Gene: TUFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845717_28845718insTG , CM000678.2:g.28845717_28845718insTG GRCh38
NC_000016.9:g.28857038_28857039insTG , CM000678.1:g.28857038_28857039insTG GRCh37
NC_000016.8:g.28764539_28764540insTG NCBI36
NG_008964.1:g.5691_5692insCA
NG_029706.2:g.4118_4119insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+194_247+195insCA MANE Select ENSP00000322439.3:n.247+194_247+195insCA
ENST00000313511.7:c.247+194_247+195insCA ENSP00000322439.3:n.247+194_247+195insCA
ENST00000565012.1:c.247+194_247+195insCA ENSP00000455007.1:n.247+194_247+195insCA
NM_003321.4:c.247+194_247+195insCA NP_003312.3:n.247+194_247+195insCA
XM_011545928.1:c.247+194_247+195insCA XP_011544230.1:n.247+194_247+195insCA
NM_001365360.1:c.247+194_247+195insCA NP_001352289.1:n.247+194_247+195insCA
NM_003321.5:c.247+194_247+195insCA MANE Select NP_003312.3:n.247+194_247+195insCA
NM_001365360.2:c.247+194_247+195insCA NP_001352289.1:n.247+194_247+195insCA