Canonical Allele Identifier: CA2215863600
Gene: TUFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845235_28845238delinsTCTC , CM000678.2:g.28845235_28845238delinsTCTC GRCh38
NC_000016.9:g.28856556_28856559delinsTCTC , CM000678.1:g.28856556_28856559delinsTCTC GRCh37
NC_000016.8:g.28764057_28764060delinsTCTC NCBI36
NG_008964.1:g.6171_6174delinsGAGA
NG_029706.2:g.3636_3639delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.414+76_414+79delinsGAGA MANE Select ENSP00000322439.3:n.414+76_414+79delinsGAGA
ENST00000313511.7:c.414+76_414+79delinsGAGA ENSP00000322439.3:n.414+76_414+79delinsGAGA
ENST00000565012.1:c.248-183_248-180delinsGAGA ENSP00000455007.1:n.248-183_248-180delinsGAGA
NM_003321.4:c.414+76_414+79delinsGAGA NP_003312.3:n.414+76_414+79delinsGAGA
XM_011545928.1:c.414+76_414+79delinsGAGA XP_011544230.1:n.414+76_414+79delinsGAGA
NM_001365360.1:c.414+76_414+79delinsGAGA NP_001352289.1:n.414+76_414+79delinsGAGA
NM_003321.5:c.414+76_414+79delinsGAGA MANE Select NP_003312.3:n.414+76_414+79delinsGAGA
NM_001365360.2:c.414+76_414+79delinsGAGA NP_001352289.1:n.414+76_414+79delinsGAGA