Canonical Allele Identifier: CA16616819
Gene: TYMP HGNC NCBI
SCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 223087
ClinVar RCV Id: RCV000208631
dbSNP Id: rs1064792891
MyVariant Identifiers: chr22:g.50964248_50964253del (hg19) chr22:g.50525819_50525824del (hg38)
PubMed: PMID:20301358 PMID:21933806
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525819_50525824del , CM000684.2:g.50525819_50525824del GRCh38
NC_000022.10:g.50964248_50964253del , CM000684.1:g.50964248_50964253del GRCh37
NC_000022.9:g.49311114_49311119del NCBI36
NG_011860.1:g.9262_9267del , LRG_727:g.9262_9267del
NG_016235.1:g.5616_5621del
NG_021419.1:g.22604_22609del

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.1395_1400del (TYMP) MANE Select ENSP00000252029.3:p.Pro466_Phe467del
ENST00000395680.6:c.1395_1400del (TYMP) ENSP00000379037.1:p.Pro466_Phe467del
ENST00000395681.6:c.1410_1415del (TYMP) ENSP00000379038.1:p.Pro471_Phe472del
ENST00000543927.6:c.-14+422_-14+427del (SCO2) ENSP00000444433.1:n.-14+422_-14+427del
ENST00000638598.2:c.-14+177_-14+182del (SCO2) ENSP00000491753.2:n.-14+177_-14+182del
ENST00000651490.1:c.187_192del (TYMP)
ENST00000252029.7:c.1395_1400del (TYMP) ENSP00000252029.3:p.Pro466_Phe467del
ENST00000395678.7:c.1395_1400del (TYMP) ENSP00000379036.3:p.Pro466_Phe467del
ENST00000395680.5:c.1395_1400del (TYMP) ENSP00000379037.1:p.Pro466_Phe467del
ENST00000395681.5:c.1410_1415del (TYMP) ENSP00000379038.1:p.Pro471_Phe472del
ENST00000423348.1:c.-14+422_-14+427del ENSP00000403570.1:n.-14+422_-14+427del
ENST00000425169.1:c.1296_1301del (TYMP) ENSP00000395875.1:p.Pro433_Phe434del
ENST00000439934.5:c.-14+177_-14+182del ENSP00000415642.1:n.-14+177_-14+182del
ENST00000476284.1:n.1505_1510del (TYMP)
ENST00000487577.5:n.1682_1687del (TYMP)
ENST00000535425.5:c.-14+177_-14+182del ENSP00000444242.1:n.-14+177_-14+182del
ENST00000543927.5:c.-14+422_-14+427del ENSP00000444433.1:n.-14+422_-14+427del
NM_001113755.2:c.1395_1400del (TYMP) NP_001107227.1:p.Pro466_Phe467del
NM_001113756.2:c.1395_1400del (TYMP) NP_001107228.1:p.Pro466_Phe467del
NM_001169109.1:c.-14+422_-14+427del (SCO2) NP_001162580.1:n.-14+422_-14+427del
NM_001169110.1:c.-14+177_-14+182del (SCO2) NP_001162581.1:n.-14+177_-14+182del
NM_001257988.1:c.1395_1400del , LRG_727t1:c.1395_1400del (TYMP) NP_001244917.1:p.Pro466_Phe467del
NM_001257989.1:c.1410_1415del , LRG_727t2:c.1410_1415del (TYMP) NP_001244918.1:p.Pro471_Phe472del
NM_001953.4:c.1395_1400del (TYMP) NP_001944.1:p.Pro466_Phe467del
NM_001113755.3:c.1395_1400del (TYMP) NP_001107227.1:p.Pro466_Phe467del
NM_001113756.3:c.1395_1400del (TYMP) NP_001107228.1:p.Pro466_Phe467del
NM_001953.5:c.1395_1400del (TYMP) MANE Select NP_001944.1:p.Pro466_Phe467del
NM_001169109.2:c.-14+422_-14+427del (SCO2) NP_001162580.1:n.-14+422_-14+427del
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