Canonical Allele Identifier: CA16043655
Gene: OBSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374349
ClinVar RCV Id: RCV000415144
dbSNP Id: rs1057518716

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219563561del , CM000664.2:g.219563561del GRCh38
NC_000002.11:g.220428283del , CM000664.1:g.220428283del GRCh37
NC_000002.10:g.220136527del NCBI36
NG_016977.1:g.12986del

Transcript Alleles

HGVS Amino-acid change
ENST00000404537.6:c.2474del MANE Select ENSP00000385636.1:p.Val825AlafsTer?
ENST00000289656.3:c.1235del ENSP00000289656.3:p.Val412AlafsTer?
ENST00000373873.8:c.2474del ENSP00000362980.4:p.Val825AlafsTer?
ENST00000373876.5:c.2474del ENSP00000362983.1:p.Val825AlafsTer?
ENST00000404537.5:c.2474del ENSP00000385636.1:p.Val825AlafsTer?
ENST00000462385.1:n.205del
ENST00000465149.1:n.1981del
ENST00000603926.5:c.2474del ENSP00000474519.1:p.Val825AlafsTer?
NM_001173408.1:c.2474del NP_001166879.1:p.Val825AlafsTer?
NM_001173431.1:c.2474del NP_001166902.1:p.Val825AlafsTer?
NM_015311.2:c.2474del NP_056126.1:p.Val825AlafsTer?
XM_005246424.3:c.2474del XP_005246481.1:p.Val825AlafsTer?
XM_005246427.3:c.2474del XP_005246484.1:p.Val825AlafsTer?
XM_011510854.1:c.2474del XP_011509156.1:p.Val825AlafsTer?
XM_011510855.1:c.2474del XP_011509157.1:p.Val825AlafsTer?
XM_011510856.1:c.2474del XP_011509158.1:p.Val825AlafsTer?
XM_011510857.1:c.2474del XP_011509159.1:p.Val825AlafsTer?
XM_011510858.1:c.2474del XP_011509160.1:p.Val825AlafsTer?
XM_011510859.1:c.2474del XP_011509161.1:p.Val825AlafsTer?
XM_011510860.1:c.2474del XP_011509162.1:p.Val825AlafsTer?
XM_011510861.1:c.2474del XP_011509163.1:p.Val825AlafsTer?
XM_011510862.1:c.2474del XP_011509164.1:p.Val825AlafsTer?
XM_011510863.1:c.2474del XP_011509165.1:p.Val825AlafsTer?
XM_011510864.1:c.2474del XP_011509166.1:p.Val825AlafsTer?
XM_011510865.1:c.2474del XP_011509167.1:p.Val825AlafsTer?
XM_011510866.1:c.2474del XP_011509168.1:p.Val825AlafsTer?
XM_011510857.2:c.2474del XP_011509159.1:p.Val825AlafsTer?
XM_011510863.3:c.2474del XP_011509165.1:p.Val825AlafsTer?
XM_011510864.2:c.2474del XP_011509166.1:p.Val825AlafsTer?
XM_011510865.2:c.2474del XP_011509167.1:p.Val825AlafsTer?
XM_011510866.2:c.2474del XP_011509168.1:p.Val825AlafsTer?
XM_017003696.2:c.2474del XP_016859185.1:p.Val825AlafsTer?
XM_017003697.2:c.2474del XP_016859186.1:p.Val825AlafsTer?
XM_017003698.1:c.2474del XP_016859187.1:p.Val825AlafsTer?
XM_017003699.1:c.2474del XP_016859188.1:p.Val825AlafsTer?
XM_017003700.1:c.2474del XP_016859189.1:p.Val825AlafsTer?
NM_015311.3:c.2474del MANE Select NP_056126.1:p.Val825AlafsTer?
NM_001173408.2:c.2474del NP_001166879.1:p.Val825AlafsTer?
NM_001173431.2:c.2474del NP_001166902.1:p.Val825AlafsTer?