Canonical Allele Identifier: CA2215864285

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845495_28845497delinsGAA , CM000678.2:g.28845495_28845497delinsGAA	GRCh38
NC_000016.9:g.28856816_28856818delinsGAA , CM000678.1:g.28856816_28856818delinsGAA	GRCh37
NC_000016.8:g.28764317_28764319delinsGAA	NCBI36
NG_008964.1:g.5912_5914delinsTTC
NG_029706.2:g.3896_3898delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-17_248-15delinsTTC MANE Select	ENSP00000322439.3:n.248-17_248-15delinsTTC
ENST00000313511.7:c.248-17_248-15delinsTTC	ENSP00000322439.3:n.248-17_248-15delinsTTC
ENST00000565012.1:c.247+415_247+417delinsTTC	ENSP00000455007.1:n.247+415_247+417delinsTTC
NM_003321.4:c.248-17_248-15delinsTTC	NP_003312.3:n.248-17_248-15delinsTTC
XM_011545928.1:c.248-17_248-15delinsTTC	XP_011544230.1:n.248-17_248-15delinsTTC
NM_001365360.1:c.248-17_248-15delinsTTC	NP_001352289.1:n.248-17_248-15delinsTTC
NM_003321.5:c.248-17_248-15delinsTTC MANE Select	NP_003312.3:n.248-17_248-15delinsTTC
NM_001365360.2:c.248-17_248-15delinsTTC	NP_001352289.1:n.248-17_248-15delinsTTC