Canonical Allele Identifier: CA2577766481
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529163_50529164insA , CM000684.2:g.50529163_50529164insA GRCh38
NC_000022.10:g.50967592_50967593insA , CM000684.1:g.50967592_50967593insA GRCh37
NC_000022.9:g.49314458_49314459insA NCBI36
NG_011860.1:g.5922_5923insT , LRG_727:g.5922_5923insT
NG_016235.1:g.2276_2277insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.389_390insT MANE Select ENSP00000252029.3:p.Pro131ThrfsTer27
ENST00000395680.6:c.389_390insT ENSP00000379037.1:p.Pro131ThrfsTer27
ENST00000395681.6:c.389_390insT ENSP00000379038.1:p.Pro131ThrfsTer27
ENST00000650719.1:c.389_390insT ENSP00000498276.1:p.Pro131ThrfsTer27
ENST00000651095.1:n.528_529insT
ENST00000651196.1:c.389_390insT ENSP00000499096.1:p.Pro131ThrfsTer?
ENST00000651401.1:c.-1+740_-1+741insT ENSP00000499115.1:n.-1+740_-1+741insT
ENST00000651906.1:n.508_509insT
ENST00000652237.1:n.665_666insT
ENST00000652352.1:c.137_138insT ENSP00000498579.1:p.Pro47ThrfsTer?
ENST00000252029.7:c.389_390insT ENSP00000252029.3:p.Pro131ThrfsTer27
ENST00000395678.7:c.389_390insT ENSP00000379036.3:p.Pro131ThrfsTer27
ENST00000395680.5:c.389_390insT ENSP00000379037.1:p.Pro131ThrfsTer27
ENST00000395681.5:c.389_390insT ENSP00000379038.1:p.Pro131ThrfsTer27
ENST00000425169.1:c.389_390insT ENSP00000395875.1:p.Pro131ThrfsTer26
ENST00000476284.1:n.514_515insT
ENST00000487162.1:n.677_678insT
ENST00000487577.5:n.676_677insT
NM_001113755.2:c.389_390insT NP_001107227.1:p.Pro131ThrfsTer27
NM_001113756.2:c.389_390insT NP_001107228.1:p.Pro131ThrfsTer27
NM_001257988.1:c.389_390insT , LRG_727t1:c.389_390insT NP_001244917.1:p.Pro131ThrfsTer27
NM_001257989.1:c.389_390insT , LRG_727t2:c.389_390insT NP_001244918.1:p.Pro131ThrfsTer27
NM_001953.4:c.389_390insT NP_001944.1:p.Pro131ThrfsTer27
NM_001113755.3:c.389_390insT NP_001107227.1:p.Pro131ThrfsTer27
NM_001113756.3:c.389_390insT NP_001107228.1:p.Pro131ThrfsTer27
NM_001953.5:c.389_390insT MANE Select NP_001944.1:p.Pro131ThrfsTer27