Canonical Allele Identifier: CA270036
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 143093
ClinVar RCV Id: RCV000132613
dbSNP Id: rs527236111

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38304674_38304675del , CM000685.2:g.38304674_38304675del GRCh38
NC_000023.10:g.38163927_38163928del , CM000685.1:g.38163927_38163928del GRCh37
NC_000023.9:g.38048871_38048872del NCBI36
NG_009553.1:g.27861_27862del

Transcript Alleles

HGVS Amino-acid change
ENST00000494707.6:c.98_99del
ENST00000642170.1:n.1189-3304_1189-3303del
ENST00000642395.2:c.894_895del ENSP00000493468.2:p.Ser298ArgfsTer?
ENST00000642558.1:c.801_802del ENSP00000496427.1:p.Ser267ArgfsTer?
ENST00000642739.1:c.894_895del ENSP00000493596.1:p.Ser298ArgfsTer?
ENST00000644238.1:c.894_895del ENSP00000496728.1:p.Ser298ArgfsTer?
ENST00000644337.1:c.894_895del ENSP00000494557.1:p.Ser298ArgfsTer?
ENST00000645032.1:c.894_895del MANE Select ENSP00000495537.1:p.Ser298ArgfsTer?
ENST00000645124.1:c.894_895del ENSP00000496446.1:p.Ser298ArgfsTer?
ENST00000646020.1:c.894_895del ENSP00000494745.1:p.Ser298ArgfsTer20
ENST00000647261.1:c.894_895del ENSP00000493681.1:p.Ser298ArgfsTer?
ENST00000318842.11:c.894_895del ENSP00000322219.6:p.Ser298ArgfsTer?
ENST00000339363.7:c.894_895del ENSP00000343671.3:p.Ser298ArgfsTer?
ENST00000378505.6:c.894_895del ENSP00000367766.2:p.Ser298ArgfsTer?
ENST00000465127.1:c.172-361447_172-361446del ENSP00000417050.1:n.172-361447_172-361446...
ENST00000474584.5:c.894_895del ENSP00000418926.1:p.Ser298ArgfsTer?
ENST00000482855.5:c.894_895del ENSP00000419276.1:p.Ser298ArgfsTer?
ENST00000494841.1:n.157_158del
NM_000328.2:c.894_895del NP_000319.1:p.Ser298ArgfsTer?
NM_001034853.1:c.894_895del NP_001030025.1:p.Ser298ArgfsTer?
XM_005272633.1:c.894_895del XP_005272690.1:p.Ser298ArgfsTer?
XM_011543940.1:c.891_892del XP_011542242.1:p.Ser297ArgfsTer?
XM_005272633.3:c.894_895del XP_005272690.1:p.Ser298ArgfsTer?
XM_011543940.3:c.891_892del XP_011542242.1:p.Ser297ArgfsTer?
XM_017029712.2:c.891_892del XP_016885201.1:p.Ser297ArgfsTer?
NM_001367245.1:c.891_892del NP_001354174.1:p.Ser297ArgfsTer?
NM_001367246.1:c.894_895del NP_001354175.1:p.Ser298ArgfsTer?
NM_001367247.1:c.894_895del NP_001354176.1:p.Ser298ArgfsTer?
NM_001367248.1:c.924_925del NP_001354177.1:p.Ser308ArgfsTer?
NM_001367249.1:c.891_892del NP_001354178.1:p.Ser297ArgfsTer?
NM_001367250.1:c.891_892del NP_001354179.1:p.Ser297ArgfsTer?
NM_001367251.1:c.894_895del NP_001354180.1:p.Ser298ArgfsTer?
NR_159803.1:n.1036_1037del
NR_159804.1:n.945_946del
NR_159805.1:n.1036_1037del
NR_159806.1:n.1036_1037del
NR_159807.1:n.1036_1037del
NR_159808.1:n.1189-3304_1189-3303del
NM_000328.3:c.894_895del NP_000319.1:p.Ser298ArgfsTer?
NM_001034853.2:c.894_895del MANE Select NP_001030025.1:p.Ser298ArgfsTer?