Canonical Allele Identifier: CA2215864894
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1961933596

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845769_28845807del , CM000678.2:g.28845769_28845807del GRCh38
NC_000016.9:g.28857090_28857128del , CM000678.1:g.28857090_28857128del GRCh37
NC_000016.8:g.28764591_28764629del NCBI36
NG_008964.1:g.5608_5646del
NG_029706.2:g.4170_4208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+111_247+149del MANE Select ENSP00000322439.3:n.247+111_247+149del
ENST00000313511.7:c.247+111_247+149del ENSP00000322439.3:n.247+111_247+149del
ENST00000565012.1:c.247+111_247+149del ENSP00000455007.1:n.247+111_247+149del
NM_003321.4:c.247+111_247+149del NP_003312.3:n.247+111_247+149del
XM_011545928.1:c.247+111_247+149del XP_011544230.1:n.247+111_247+149del
NM_001365360.1:c.247+111_247+149del NP_001352289.1:n.247+111_247+149del
NM_003321.5:c.247+111_247+149del MANE Select NP_003312.3:n.247+111_247+149del
NM_001365360.2:c.247+111_247+149del NP_001352289.1:n.247+111_247+149del