Canonical Allele Identifier: CA915952299
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 765990
ClinVar RCV Id: RCV000944471
dbSNP Id: rs1603441867

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526557_50526567del , CM000684.2:g.50526557_50526567del GRCh38
NC_000022.10:g.50964986_50964996del , CM000684.1:g.50964986_50964996del GRCh37
NC_000022.9:g.49311852_49311862del NCBI36
NG_011860.1:g.8520_8530del , LRG_727:g.8520_8530del
NG_016235.1:g.4874_4884del
NG_021419.1:g.23342_23352del

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.928+10_928+20del MANE Select ENSP00000252029.3:n.928+10_928+20del
ENST00000395680.6:c.928+10_928+20del ENSP00000379037.1:n.928+10_928+20del
ENST00000395681.6:c.928+10_928+20del ENSP00000379038.1:n.928+10_928+20del
ENST00000650719.1:c.809+10_809+20del ENSP00000498276.1:n.809+10_809+20del
ENST00000651401.1:c.412+10_412+20del ENSP00000499115.1:n.412+10_412+20del
ENST00000652401.1:c.429+10_429+20del
ENST00000252029.7:c.928+10_928+20del ENSP00000252029.3:n.928+10_928+20del
ENST00000395678.7:c.928+10_928+20del ENSP00000379036.3:n.928+10_928+20del
ENST00000395680.5:c.928+10_928+20del ENSP00000379037.1:n.928+10_928+20del
ENST00000395681.5:c.928+10_928+20del ENSP00000379038.1:n.928+10_928+20del
ENST00000425169.1:c.829+10_829+20del ENSP00000395875.1:n.829+10_829+20del
ENST00000476284.1:n.934+10_934+20del
ENST00000487577.5:n.1215+10_1215+20del
NM_001113755.2:c.928+10_928+20del NP_001107227.1:n.928+10_928+20del
NM_001113756.2:c.928+10_928+20del NP_001107228.1:n.928+10_928+20del
NM_001257988.1:c.928+10_928+20del , LRG_727t1:c.928+10_928+20del NP_001244917.1:n.928+10_928+20del
NM_001257989.1:c.928+10_928+20del , LRG_727t2:c.928+10_928+20del NP_001244918.1:n.928+10_928+20del
NM_001953.4:c.928+10_928+20del NP_001944.1:n.928+10_928+20del
NM_001113755.3:c.928+10_928+20del NP_001107227.1:n.928+10_928+20del
NM_001113756.3:c.928+10_928+20del NP_001107228.1:n.928+10_928+20del
NM_001953.5:c.928+10_928+20del MANE Select NP_001944.1:n.928+10_928+20del