Canonical Allele Identifier: CA2695231070
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529658_50529659del , CM000684.2:g.50529658_50529659del GRCh38
NC_000022.10:g.50968087_50968088del , CM000684.1:g.50968087_50968088del GRCh37
NC_000022.9:g.49314953_49314954del NCBI36
NG_011860.1:g.5427_5428del , LRG_727:g.5427_5428del
NG_016235.1:g.1781_1782del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.51_52del MANE Select ENSP00000252029.3:p.Phe18LeufsTer?
ENST00000395680.6:c.51_52del ENSP00000379037.1:p.Phe18LeufsTer?
ENST00000395681.6:c.51_52del ENSP00000379038.1:p.Phe18LeufsTer?
ENST00000650719.1:c.51_52del ENSP00000498276.1:p.Phe18LeufsTer?
ENST00000651095.1:n.190_191del
ENST00000651196.1:c.51_52del ENSP00000499096.1:p.Phe18LeufsTer?
ENST00000651401.1:c.-1+245_-1+246del ENSP00000499115.1:n.-1+245_-1+246del
ENST00000651906.1:n.170_171del
ENST00000652237.1:n.170_171del
ENST00000252029.7:c.51_52del ENSP00000252029.3:p.Phe18LeufsTer?
ENST00000395678.7:c.51_52del ENSP00000379036.3:p.Phe18LeufsTer?
ENST00000395680.5:c.51_52del ENSP00000379037.1:p.Phe18LeufsTer?
ENST00000395681.5:c.51_52del ENSP00000379038.1:p.Phe18LeufsTer?
ENST00000425169.1:c.51_52del ENSP00000395875.1:p.Phe18LeufsTer?
ENST00000476284.1:n.176_177del
ENST00000487162.1:n.182_183del
ENST00000487577.5:n.338_339del
NM_001113755.2:c.51_52del NP_001107227.1:p.Phe18LeufsTer?
NM_001113756.2:c.51_52del NP_001107228.1:p.Phe18LeufsTer?
NM_001257988.1:c.51_52del , LRG_727t1:c.51_52del NP_001244917.1:p.Phe18LeufsTer?
NM_001257989.1:c.51_52del , LRG_727t2:c.51_52del NP_001244918.1:p.Phe18LeufsTer?
NM_001953.4:c.51_52del NP_001944.1:p.Phe18LeufsTer?
NM_001113755.3:c.51_52del NP_001107227.1:p.Phe18LeufsTer?
NM_001113756.3:c.51_52del NP_001107228.1:p.Phe18LeufsTer?
NM_001953.5:c.51_52del MANE Select NP_001944.1:p.Phe18LeufsTer?