Canonical Allele Identifier: CA2838969311
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527192dup , CM000684.2:g.50527192dup GRCh38
NC_000022.10:g.50965621dup , CM000684.1:g.50965621dup GRCh37
NC_000022.9:g.49312487dup NCBI36
NG_011860.1:g.7894dup , LRG_727:g.7894dup
NG_016235.1:g.4248dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.738dup MANE Select ENSP00000252029.3:p.Gln247AlafsTer?
ENST00000395680.6:c.738dup ENSP00000379037.1:p.Gln247AlafsTer?
ENST00000395681.6:c.738dup ENSP00000379038.1:p.Gln247AlafsTer?
ENST00000650719.1:c.646+396dup ENSP00000498276.1:n.646+396dup
ENST00000651401.1:c.222dup ENSP00000499115.1:p.Gln75AlafsTer?
ENST00000652352.1:c.449dup ENSP00000498579.1:n.449dup
ENST00000652401.1:c.239dup
ENST00000252029.7:c.738dup ENSP00000252029.3:p.Gln247AlafsTer?
ENST00000395678.7:c.738dup ENSP00000379036.3:p.Gln247AlafsTer?
ENST00000395680.5:c.738dup ENSP00000379037.1:p.Gln247AlafsTer?
ENST00000395681.5:c.738dup ENSP00000379038.1:p.Gln247AlafsTer?
ENST00000425169.1:c.639dup ENSP00000395875.1:p.Gln214AlafsTer?
ENST00000476284.1:n.771+396dup
ENST00000487577.5:n.1025dup
NM_001113755.2:c.738dup NP_001107227.1:p.Gln247AlafsTer?
NM_001113756.2:c.738dup NP_001107228.1:p.Gln247AlafsTer?
NM_001257988.1:c.738dup , LRG_727t1:c.738dup NP_001244917.1:p.Gln247AlafsTer?
NM_001257989.1:c.738dup , LRG_727t2:c.738dup NP_001244918.1:p.Gln247AlafsTer?
NM_001953.4:c.738dup NP_001944.1:p.Gln247AlafsTer?
NM_001113755.3:c.738dup NP_001107227.1:p.Gln247AlafsTer?
NM_001113756.3:c.738dup NP_001107228.1:p.Gln247AlafsTer?
NM_001953.5:c.738dup MANE Select NP_001944.1:p.Gln247AlafsTer?