Canonical Allele Identifier: CA2215864906
Gene: TUFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845770_28845772delinsATC , CM000678.2:g.28845770_28845772delinsATC GRCh38
NC_000016.9:g.28857091_28857093delinsATC , CM000678.1:g.28857091_28857093delinsATC GRCh37
NC_000016.8:g.28764592_28764594delinsATC NCBI36
NG_008964.1:g.5637_5639delinsGAT
NG_029706.2:g.4171_4173delinsATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+140_247+142delinsGAT MANE Select ENSP00000322439.3:n.247+140_247+142delinsGAT
ENST00000313511.7:c.247+140_247+142delinsGAT ENSP00000322439.3:n.247+140_247+142delinsGAT
ENST00000565012.1:c.247+140_247+142delinsGAT ENSP00000455007.1:n.247+140_247+142delinsGAT
NM_003321.4:c.247+140_247+142delinsGAT NP_003312.3:n.247+140_247+142delinsGAT
XM_011545928.1:c.247+140_247+142delinsGAT XP_011544230.1:n.247+140_247+142delinsGAT
NM_001365360.1:c.247+140_247+142delinsGAT NP_001352289.1:n.247+140_247+142delinsGAT
NM_003321.5:c.247+140_247+142delinsGAT MANE Select NP_003312.3:n.247+140_247+142delinsGAT
NM_001365360.2:c.247+140_247+142delinsGAT NP_001352289.1:n.247+140_247+142delinsGAT