Canonical Allele Identifier: CA16616820
Gene: TYMP HGNC NCBI
SCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 223088
ClinVar RCV Id: RCV000208673
dbSNP Id: rs1064792892
PubMed: PMID:20301358 PMID:21933806
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526386_50526395delinsTT , CM000684.2:g.50526386_50526395delinsTT GRCh38
NC_000022.10:g.50964815_50964824delinsTT , CM000684.1:g.50964815_50964824delinsTT GRCh37
NC_000022.9:g.49311681_49311690delinsTT NCBI36
NG_011860.1:g.8691_8700delinsAA , LRG_727:g.8691_8700delinsAA
NG_016235.1:g.5045_5054delinsAA
NG_021419.1:g.23171_23180delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.1010_1019delinsAA (TYMP) MANE Select ENSP00000252029.3:p.Gly337GlufsTer?
ENST00000395680.6:c.1010_1019delinsAA (TYMP) ENSP00000379037.1:p.Gly337GlufsTer?
ENST00000395681.6:c.1010_1019delinsAA (TYMP) ENSP00000379038.1:p.Gly337GlufsTer?
ENST00000543927.6:c.-163_-154delinsAA (SCO2) ENSP00000444433.1:n.-163_-154delinsAA
ENST00000650719.1:c.891_900delinsAA (TYMP) ENSP00000498276.1:p.Leu298MetfsTer?
ENST00000651401.1:c.494_503delinsAA (TYMP) ENSP00000499115.1:p.Gly165GlufsTer?
ENST00000652401.1:c.511_520delinsAA (TYMP)
ENST00000252029.7:c.1010_1019delinsAA (TYMP) ENSP00000252029.3:p.Gly337GlufsTer?
ENST00000395678.7:c.1010_1019delinsAA (TYMP) ENSP00000379036.3:p.Gly337GlufsTer?
ENST00000395680.5:c.1010_1019delinsAA (TYMP) ENSP00000379037.1:p.Gly337GlufsTer?
ENST00000395681.5:c.1010_1019delinsAA (TYMP) ENSP00000379038.1:p.Gly337GlufsTer?
ENST00000423348.1:c.-163_-154delinsAA ENSP00000403570.1:n.-163_-154delinsAA
ENST00000425169.1:c.911_920delinsAA (TYMP) ENSP00000395875.1:p.Gly304GlufsTer?
ENST00000476284.1:n.1016_1025delinsAA (TYMP)
ENST00000487577.5:n.1297_1306delinsAA (TYMP)
ENST00000543927.5:c.-163_-154delinsAA ENSP00000444433.1:n.-163_-154delinsAA
NM_001113755.2:c.1010_1019delinsAA (TYMP) NP_001107227.1:p.Gly337GlufsTer?
NM_001113756.2:c.1010_1019delinsAA (TYMP) NP_001107228.1:p.Gly337GlufsTer?
NM_001169109.1:c.-163_-154delinsAA (SCO2) NP_001162580.1:n.-163_-154delinsAA
NM_001257988.1:c.1010_1019delinsAA , LRG_727t1:c.1010_1019delinsAA (TYMP) NP_001244917.1:p.Gly337GlufsTer?
NM_001257989.1:c.1010_1019delinsAA , LRG_727t2:c.1010_1019delinsAA (TYMP) NP_001244918.1:p.Gly337GlufsTer?
NM_001953.4:c.1010_1019delinsAA (TYMP) NP_001944.1:p.Gly337GlufsTer?
NM_001113755.3:c.1010_1019delinsAA (TYMP) NP_001107227.1:p.Gly337GlufsTer?
NM_001113756.3:c.1010_1019delinsAA (TYMP) NP_001107228.1:p.Gly337GlufsTer?
NM_001953.5:c.1010_1019delinsAA (TYMP) MANE Select NP_001944.1:p.Gly337GlufsTer?
NM_001169109.2:c.-163_-154delinsAA (SCO2) NP_001162580.1:n.-163_-154delinsAA
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