Canonical Allele Identifier: CA2632531434
Gene: TUFM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845513_28845514del , CM000678.2:g.28845513_28845514del GRCh38
NC_000016.9:g.28856834_28856835del , CM000678.1:g.28856834_28856835del GRCh37
NC_000016.8:g.28764335_28764336del NCBI36
NG_008964.1:g.5896_5897del
NG_029706.2:g.3914_3915del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.248-33_248-32del MANE Select ENSP00000322439.3:n.248-33_248-32del
ENST00000313511.7:c.248-33_248-32del ENSP00000322439.3:n.248-33_248-32del
ENST00000565012.1:c.247+399_247+400del ENSP00000455007.1:n.247+399_247+400del
NM_003321.4:c.248-33_248-32del NP_003312.3:n.248-33_248-32del
XM_011545928.1:c.248-33_248-32del XP_011544230.1:n.248-33_248-32del
NM_001365360.1:c.248-33_248-32del NP_001352289.1:n.248-33_248-32del
NM_003321.5:c.248-33_248-32del MANE Select NP_003312.3:n.248-33_248-32del
NM_001365360.2:c.248-33_248-32del NP_001352289.1:n.248-33_248-32del