Canonical Allele Identifier: CA16616813
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223079
ClinVar RCV Id: RCV000208656
dbSNP Id: rs1064792886
MyVariant Identifiers: chr22:g.50967718_50967719del (hg19) chr22:g.50529289_50529290del (hg38)
PubMed: PMID:20301358 PMID:21933806
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529289_50529290del , CM000684.2:g.50529289_50529290del GRCh38
NC_000022.10:g.50967718_50967719del , CM000684.1:g.50967718_50967719del GRCh37
NC_000022.9:g.49314584_49314585del NCBI36
NG_011860.1:g.5796_5797del , LRG_727:g.5796_5797del
NG_016235.1:g.2150_2151del

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.263_264del MANE Select ENSP00000252029.3:p.Thr88IlefsTer?
ENST00000395680.6:c.263_264del ENSP00000379037.1:p.Thr88IlefsTer?
ENST00000395681.6:c.263_264del ENSP00000379038.1:p.Thr88IlefsTer?
ENST00000650719.1:c.263_264del ENSP00000498276.1:p.Thr88IlefsTer?
ENST00000651095.1:n.402_403del
ENST00000651196.1:c.263_264del ENSP00000499096.1:p.Thr88IlefsTer?
ENST00000651401.1:c.-1+614_-1+615del ENSP00000499115.1:n.-1+614_-1+615del
ENST00000651906.1:n.382_383del
ENST00000652237.1:n.539_540del
ENST00000652352.1:c.11_12del ENSP00000498579.1:p.Thr4IlefsTer?
ENST00000252029.7:c.263_264del ENSP00000252029.3:p.Thr88IlefsTer?
ENST00000395678.7:c.263_264del ENSP00000379036.3:p.Thr88IlefsTer?
ENST00000395680.5:c.263_264del ENSP00000379037.1:p.Thr88IlefsTer?
ENST00000395681.5:c.263_264del ENSP00000379038.1:p.Thr88IlefsTer?
ENST00000425169.1:c.263_264del ENSP00000395875.1:p.Thr88IlefsTer?
ENST00000476284.1:n.388_389del
ENST00000487162.1:n.551_552del
ENST00000487577.5:n.550_551del
NM_001113755.2:c.263_264del NP_001107227.1:p.Thr88IlefsTer?
NM_001113756.2:c.263_264del NP_001107228.1:p.Thr88IlefsTer?
NM_001257988.1:c.263_264del , LRG_727t1:c.263_264del NP_001244917.1:p.Thr88IlefsTer?
NM_001257989.1:c.263_264del , LRG_727t2:c.263_264del NP_001244918.1:p.Thr88IlefsTer?
NM_001953.4:c.263_264del NP_001944.1:p.Thr88IlefsTer?
NM_001113755.3:c.263_264del NP_001107227.1:p.Thr88IlefsTer?
NM_001113756.3:c.263_264del NP_001107228.1:p.Thr88IlefsTer?
NM_001953.5:c.263_264del MANE Select NP_001944.1:p.Thr88IlefsTer?
Search 100 bp 5'
Search 100 bp 3'