Canonical Allele Identifier: CA16616815
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223081
ClinVar RCV Id: RCV000208623
dbSNP Id: rs1064792888
MyVariant Identifiers: chr22:g.50965149del (hg19) chr22:g.50526720del (hg38)
PubMed: PMID:15781193 PMID:20301358
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526721del , CM000684.2:g.50526721del GRCh38
NC_000022.10:g.50965150del , CM000684.1:g.50965150del GRCh37
NC_000022.9:g.49312016del NCBI36
NG_011860.1:g.8366del , LRG_727:g.8366del
NG_016235.1:g.4720del
NG_021419.1:g.23506del

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.784del MANE Select ENSP00000252029.3:p.Leu262Ter
ENST00000395680.6:c.784del ENSP00000379037.1:p.Leu262Ter
ENST00000395681.6:c.784del ENSP00000379038.1:p.Leu262Ter
ENST00000650719.1:c.665del ENSP00000498276.1:p.Pro222LeufsTer?
ENST00000651401.1:c.268del ENSP00000499115.1:p.Leu90Ter
ENST00000652352.1:c.495del ENSP00000498579.1:n.495del
ENST00000652401.1:c.285del
ENST00000252029.7:c.784del ENSP00000252029.3:p.Leu262Ter
ENST00000395678.7:c.784del ENSP00000379036.3:p.Leu262Ter
ENST00000395680.5:c.784del ENSP00000379037.1:p.Leu262Ter
ENST00000395681.5:c.784del ENSP00000379038.1:p.Leu262Ter
ENST00000425169.1:c.685del ENSP00000395875.1:p.Leu229Ter
ENST00000476284.1:n.790del
ENST00000487577.5:n.1071del
NM_001113755.2:c.784del NP_001107227.1:p.Leu262Ter
NM_001113756.2:c.784del NP_001107228.1:p.Leu262Ter
NM_001257988.1:c.784del , LRG_727t1:c.784del NP_001244917.1:p.Leu262Ter
NM_001257989.1:c.784del , LRG_727t2:c.784del NP_001244918.1:p.Leu262Ter
NM_001953.4:c.784del NP_001944.1:p.Leu262Ter
NM_001113755.3:c.784del NP_001107227.1:p.Leu262Ter
NM_001113756.3:c.784del NP_001107228.1:p.Leu262Ter
NM_001953.5:c.784del MANE Select NP_001944.1:p.Leu262Ter
Search 100 bp 5'
Search 100 bp 3'