Canonical Allele Identifier: CA2806422080
Gene: TUFM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845720_28845721del , CM000678.2:g.28845720_28845721del GRCh38
NC_000016.9:g.28857041_28857042del , CM000678.1:g.28857041_28857042del GRCh37
NC_000016.8:g.28764542_28764543del NCBI36
NG_008964.1:g.5688_5689del
NG_029706.2:g.4121_4122del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+191_247+192del MANE Select ENSP00000322439.3:n.247+191_247+192del
ENST00000313511.7:c.247+191_247+192del ENSP00000322439.3:n.247+191_247+192del
ENST00000565012.1:c.247+191_247+192del ENSP00000455007.1:n.247+191_247+192del
NM_003321.4:c.247+191_247+192del NP_003312.3:n.247+191_247+192del
XM_011545928.1:c.247+191_247+192del XP_011544230.1:n.247+191_247+192del
NM_001365360.1:c.247+191_247+192del NP_001352289.1:n.247+191_247+192del
NM_003321.5:c.247+191_247+192del MANE Select NP_003312.3:n.247+191_247+192del
NM_001365360.2:c.247+191_247+192del NP_001352289.1:n.247+191_247+192del