Canonical Allele Identifier: CA2215864789
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1961931275

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845717del , CM000678.2:g.28845717del GRCh38
NC_000016.9:g.28857038del , CM000678.1:g.28857038del GRCh37
NC_000016.8:g.28764539del NCBI36
NG_008964.1:g.5693del
NG_029706.2:g.4118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+196del MANE Select ENSP00000322439.3:n.247+196del
ENST00000313511.7:c.247+196del ENSP00000322439.3:n.247+196del
ENST00000565012.1:c.247+196del ENSP00000455007.1:n.247+196del
NM_003321.4:c.247+196del NP_003312.3:n.247+196del
XM_011545928.1:c.247+196del XP_011544230.1:n.247+196del
NM_001365360.1:c.247+196del NP_001352289.1:n.247+196del
NM_003321.5:c.247+196del MANE Select NP_003312.3:n.247+196del
NM_001365360.2:c.247+196del NP_001352289.1:n.247+196del