Canonical Allele Identifier: CA2215864880
Gene: TUFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845759_28845761delinsTTG , CM000678.2:g.28845759_28845761delinsTTG GRCh38
NC_000016.9:g.28857080_28857082delinsTTG , CM000678.1:g.28857080_28857082delinsTTG GRCh37
NC_000016.8:g.28764581_28764583delinsTTG NCBI36
NG_008964.1:g.5648_5650delinsCAA
NG_029706.2:g.4160_4162delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+151_247+153delinsCAA MANE Select ENSP00000322439.3:n.247+151_247+153delinsCAA
ENST00000313511.7:c.247+151_247+153delinsCAA ENSP00000322439.3:n.247+151_247+153delinsCAA
ENST00000565012.1:c.247+151_247+153delinsCAA ENSP00000455007.1:n.247+151_247+153delinsCAA
NM_003321.4:c.247+151_247+153delinsCAA NP_003312.3:n.247+151_247+153delinsCAA
XM_011545928.1:c.247+151_247+153delinsCAA XP_011544230.1:n.247+151_247+153delinsCAA
NM_001365360.1:c.247+151_247+153delinsCAA NP_001352289.1:n.247+151_247+153delinsCAA
NM_003321.5:c.247+151_247+153delinsCAA MANE Select NP_003312.3:n.247+151_247+153delinsCAA
NM_001365360.2:c.247+151_247+153delinsCAA NP_001352289.1:n.247+151_247+153delinsCAA