Canonical Allele Identifier: CA2988722222
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529141_50529143del , CM000684.2:g.50529141_50529143del GRCh38
NC_000022.10:g.50967570_50967572del , CM000684.1:g.50967570_50967572del GRCh37
NC_000022.9:g.49314436_49314438del NCBI36
NG_011860.1:g.5945_5947del , LRG_727:g.5945_5947del
NG_016235.1:g.2299_2301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.412_414del MANE Select ENSP00000252029.3:p.Cys138del
ENST00000395680.6:c.412_414del ENSP00000379037.1:p.Cys138del
ENST00000395681.6:c.412_414del ENSP00000379038.1:p.Cys138del
ENST00000650719.1:c.412_414del ENSP00000498276.1:p.Cys138del
ENST00000651095.1:n.551_553del
ENST00000651401.1:c.-1+763_-1+765del ENSP00000499115.1:n.-1+763_-1+765del
ENST00000651906.1:n.531_533del
ENST00000652237.1:n.688_690del
ENST00000652352.1:c.160_162del ENSP00000498579.1:p.Cys54del
ENST00000252029.7:c.412_414del ENSP00000252029.3:p.Cys138del
ENST00000395678.7:c.412_414del ENSP00000379036.3:p.Cys138del
ENST00000395680.5:c.412_414del ENSP00000379037.1:p.Cys138del
ENST00000395681.5:c.412_414del ENSP00000379038.1:p.Cys138del
ENST00000425169.1:c.412_414del ENSP00000395875.1:p.Cys138del
ENST00000476284.1:n.537_539del
ENST00000487162.1:n.700_702del
ENST00000487577.5:n.699_701del
NM_001113755.2:c.412_414del NP_001107227.1:p.Cys138del
NM_001113756.2:c.412_414del NP_001107228.1:p.Cys138del
NM_001257988.1:c.412_414del , LRG_727t1:c.412_414del NP_001244917.1:p.Cys138del
NM_001257989.1:c.412_414del , LRG_727t2:c.412_414del NP_001244918.1:p.Cys138del
NM_001953.4:c.412_414del NP_001944.1:p.Cys138del
NM_001113755.3:c.412_414del NP_001107227.1:p.Cys138del
NM_001113756.3:c.412_414del NP_001107228.1:p.Cys138del
NM_001953.5:c.412_414del MANE Select NP_001944.1:p.Cys138del