Canonical Allele Identifier: CA2693439067
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286351_38286353del , CM000685.2:g.38286351_38286353del GRCh38
NC_000023.10:g.38145604_38145606del , CM000685.1:g.38145604_38145606del GRCh37
NC_000023.9:g.38030548_38030550del NCBI36
NG_009553.1:g.46185_46187del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1514_953+1516del
ENST00000642170.1:n.1826+4608_1826+4610del
ENST00000642395.2:c.1905+743_1905+745del ENSP00000493468.2:n.1905+743_1905+745del
ENST00000642739.1:c.1572+4608_1572+4610del ENSP00000493596.1:n.1572+4608_1572+4610del
ENST00000644238.1:c.1386+4608_1386+4610del ENSP00000496728.1:n.1386+4608_1386+4610del
ENST00000644337.1:c.1719+743_1719+745del ENSP00000494557.1:n.1719+743_1719+745del
ENST00000645032.1:c.2648_2650del MANE Select ENSP00000495537.1:p.Gly883del
ENST00000645124.1:c.*101+743_*101+745del ENSP00000496446.1:n.*101+743_*101+745del
ENST00000646020.1:c.*594+743_*594+745del ENSP00000494745.1:n.*594+743_*594+745del
ENST00000318842.11:c.1905+743_1905+745del ENSP00000322219.6:n.1905+743_1905+745del
ENST00000339363.7:c.2520+743_2520+745del ENSP00000343671.3:n.2520+743_2520+745del
ENST00000378505.6:c.2648_2650del ENSP00000367766.2:p.Gly883del
ENST00000465127.1:c.172-379770_172-379768del ENSP00000417050.1:n.172-379770_172-379768del
ENST00000474584.5:c.*37+4608_*37+4610del ENSP00000418926.1:n.*37+4608_*37+4610del
ENST00000482855.5:c.1905+743_1905+745del ENSP00000419276.1:n.1905+743_1905+745del
ENST00000494707.5:c.139+4608_139+4610del
NM_000328.2:c.1905+743_1905+745del NP_000319.1:n.1905+743_1905+745del
NM_001034853.1:c.2648_2650del NP_001030025.1:p.Gly883del
XM_005272633.1:c.1572+4608_1572+4610del XP_005272690.1:n.1572+4608_1572+4610del
XM_011543940.1:c.1902+743_1902+745del XP_011542242.1:n.1902+743_1902+745del
XM_005272633.3:c.1572+4608_1572+4610del XP_005272690.1:n.1572+4608_1572+4610del
XM_011543940.3:c.1902+743_1902+745del XP_011542242.1:n.1902+743_1902+745del
XM_017029712.2:c.1569+4608_1569+4610del XP_016885201.1:n.1569+4608_1569+4610del
NM_001367245.1:c.1902+743_1902+745del NP_001354174.1:n.1902+743_1902+745del
NM_001367246.1:c.1719+743_1719+745del NP_001354175.1:n.1719+743_1719+745del
NM_001367247.1:c.1572+4608_1572+4610del NP_001354176.1:n.1572+4608_1572+4610del
NM_001367248.1:c.1602+4608_1602+4610del NP_001354177.1:n.1602+4608_1602+4610del
NM_001367249.1:c.1569+4608_1569+4610del NP_001354178.1:n.1569+4608_1569+4610del
NM_001367250.1:c.1569+4608_1569+4610del NP_001354179.1:n.1569+4608_1569+4610del
NM_001367251.1:c.1386+4608_1386+4610del NP_001354180.1:n.1386+4608_1386+4610del
NR_159803.1:n.2263+743_2263+745del
NR_159804.1:n.1648+4608_1648+4610del
NR_159805.1:n.1714+4608_1714+4610del
NR_159806.1:n.1866+743_1866+745del
NR_159807.1:n.1622+4608_1622+4610del
NR_159808.1:n.1826+4608_1826+4610del
NM_000328.3:c.1905+743_1905+745del NP_000319.1:n.1905+743_1905+745del
NM_001034853.2:c.2648_2650del MANE Select NP_001030025.1:p.Gly883del