Canonical Allele Identifier: CA412730194
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286377_38286378del , CM000685.2:g.38286377_38286378del GRCh38
NC_000023.10:g.38145630_38145631del , CM000685.1:g.38145630_38145631del GRCh37
NC_000023.9:g.38030574_38030575del NCBI36
NG_009553.1:g.46160_46161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1489_953+1490del
ENST00000642170.1:n.1826+4583_1826+4584del
ENST00000642395.2:c.1905+718_1905+719del ENSP00000493468.2:n.1905+718_1905+719del
ENST00000642739.1:c.1572+4583_1572+4584del ENSP00000493596.1:n.1572+4583_1572+4584del
ENST00000644238.1:c.1386+4583_1386+4584del ENSP00000496728.1:n.1386+4583_1386+4584del
ENST00000644337.1:c.1719+718_1719+719del ENSP00000494557.1:n.1719+718_1719+719del
ENST00000645032.1:c.2623_2624del MANE Select ENSP00000495537.1:p.Glu875ArgfsTer?
ENST00000645124.1:c.*101+718_*101+719del ENSP00000496446.1:n.*101+718_*101+719del
ENST00000646020.1:c.*594+718_*594+719del ENSP00000494745.1:n.*594+718_*594+719del
ENST00000318842.11:c.1905+718_1905+719del ENSP00000322219.6:n.1905+718_1905+719del
ENST00000339363.7:c.2520+718_2520+719del ENSP00000343671.3:n.2520+718_2520+719del
ENST00000378505.6:c.2623_2624del ENSP00000367766.2:p.Glu875ArgfsTer?
ENST00000465127.1:c.172-379744_172-379743del ENSP00000417050.1:n.172-379744_172-379743del
ENST00000474584.5:c.*37+4583_*37+4584del ENSP00000418926.1:n.*37+4583_*37+4584del
ENST00000482855.5:c.1905+718_1905+719del ENSP00000419276.1:n.1905+718_1905+719del
ENST00000494707.5:c.139+4583_139+4584del
NM_000328.2:c.1905+718_1905+719del NP_000319.1:n.1905+718_1905+719del
NM_001034853.1:c.2623_2624del NP_001030025.1:p.Glu875ArgfsTer?
XM_005272633.1:c.1572+4583_1572+4584del XP_005272690.1:n.1572+4583_1572+4584del
XM_011543940.1:c.1902+718_1902+719del XP_011542242.1:n.1902+718_1902+719del
XM_005272633.3:c.1572+4583_1572+4584del XP_005272690.1:n.1572+4583_1572+4584del
XM_011543940.3:c.1902+718_1902+719del XP_011542242.1:n.1902+718_1902+719del
XM_017029712.2:c.1569+4583_1569+4584del XP_016885201.1:n.1569+4583_1569+4584del
NM_001367245.1:c.1902+718_1902+719del NP_001354174.1:n.1902+718_1902+719del
NM_001367246.1:c.1719+718_1719+719del NP_001354175.1:n.1719+718_1719+719del
NM_001367247.1:c.1572+4583_1572+4584del NP_001354176.1:n.1572+4583_1572+4584del
NM_001367248.1:c.1602+4583_1602+4584del NP_001354177.1:n.1602+4583_1602+4584del
NM_001367249.1:c.1569+4583_1569+4584del NP_001354178.1:n.1569+4583_1569+4584del
NM_001367250.1:c.1569+4583_1569+4584del NP_001354179.1:n.1569+4583_1569+4584del
NM_001367251.1:c.1386+4583_1386+4584del NP_001354180.1:n.1386+4583_1386+4584del
NR_159803.1:n.2263+718_2263+719del
NR_159804.1:n.1648+4583_1648+4584del
NR_159805.1:n.1714+4583_1714+4584del
NR_159806.1:n.1866+718_1866+719del
NR_159807.1:n.1622+4583_1622+4584del
NR_159808.1:n.1826+4583_1826+4584del
NM_000328.3:c.1905+718_1905+719del NP_000319.1:n.1905+718_1905+719del
NM_001034853.2:c.2623_2624del MANE Select NP_001030025.1:p.Glu875ArgfsTer?