Canonical Allele Identifier: CA2844035839
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286167_38286168insTCATCCTCCTCTTCCCCTTCT , CM000685.2:g.38286167_38286168insTCATCCTCCTCTTCCCCTTCT GRCh38
NC_000023.10:g.38145420_38145421insTCATCCTCCTCTTCCCCTTCT , CM000685.1:g.38145420_38145421insTCATCCTCCTCTTCCCCTTCT GRCh37
NC_000023.9:g.38030364_38030365insTCATCCTCCTCTTCCCCTTCT NCBI36
NG_009553.1:g.46377_46378insAGAGGAGGATGAAGAAGGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1706_953+1707insAGAGGAGGATGAAGAAGGGGA
ENST00000642170.1:n.1826+4800_1826+4801insAGAGGAGGATGAAGAAGGGGA
ENST00000642395.2:c.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA ENSP00000493468.2:n.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000642739.1:c.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA ENSP00000493596.1:n.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGG...
ENST00000644238.1:c.1386+4800_1386+4801insAGAGGAGGATGAAGAAGGGGA ENSP00000496728.1:n.1386+4800_1386+4801insAGAGGAGGATGAAGAAGGG...
ENST00000644337.1:c.1719+935_1719+936insAGAGGAGGATGAAGAAGGGGA ENSP00000494557.1:n.1719+935_1719+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000645032.1:c.2840_2841insAGAGGAGGATGAAGAAGGGGA MANE Select ENSP00000495537.1:p.Glu947_Gly948insGluGluAspGluGluGlyGlu
ENST00000645124.1:c.*101+935_*101+936insAGAGGAGGATGAAGAAGGGGA ENSP00000496446.1:n.*101+935_*101+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000646020.1:c.*594+935_*594+936insAGAGGAGGATGAAGAAGGGGA ENSP00000494745.1:n.*594+935_*594+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000318842.11:c.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA ENSP00000322219.6:n.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000339363.7:c.2520+935_2520+936insAGAGGAGGATGAAGAAGGGGA ENSP00000343671.3:n.2520+935_2520+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000378505.6:c.2840_2841insAGAGGAGGATGAAGAAGGGGA ENSP00000367766.2:p.Glu947_Gly948insGluGluAspGluGluGlyGlu
ENST00000465127.1:c.172-379954_172-379953insTCATCCTCCTCTTCCCCTTCT ENSP00000417050.1:n.172-379954_172-379953insTCATCCTCCTCTTCCCC...
ENST00000474584.5:c.*37+4800_*37+4801insAGAGGAGGATGAAGAAGGGGA ENSP00000418926.1:n.*37+4800_*37+4801insAGAGGAGGATGAAGAAGGGGA...
ENST00000482855.5:c.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA ENSP00000419276.1:n.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA...
ENST00000494707.5:c.139+4800_139+4801insAGAGGAGGATGAAGAAGGGGA
NM_000328.2:c.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA NP_000319.1:n.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA
NM_001034853.1:c.2840_2841insAGAGGAGGATGAAGAAGGGGA NP_001030025.1:p.Glu947_Gly948insGluGluAspGluGluGlyGlu
XM_005272633.1:c.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA XP_005272690.1:n.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA
XM_011543940.1:c.1902+935_1902+936insAGAGGAGGATGAAGAAGGGGA XP_011542242.1:n.1902+935_1902+936insAGAGGAGGATGAAGAAGGGGA
XM_005272633.3:c.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA XP_005272690.1:n.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA
XM_011543940.3:c.1902+935_1902+936insAGAGGAGGATGAAGAAGGGGA XP_011542242.1:n.1902+935_1902+936insAGAGGAGGATGAAGAAGGGGA
XM_017029712.2:c.1569+4800_1569+4801insAGAGGAGGATGAAGAAGGGGA XP_016885201.1:n.1569+4800_1569+4801insAGAGGAGGATGAAGAAGGGGA
NM_001367245.1:c.1902+935_1902+936insAGAGGAGGATGAAGAAGGGGA NP_001354174.1:n.1902+935_1902+936insAGAGGAGGATGAAGAAGGGGA
NM_001367246.1:c.1719+935_1719+936insAGAGGAGGATGAAGAAGGGGA NP_001354175.1:n.1719+935_1719+936insAGAGGAGGATGAAGAAGGGGA
NM_001367247.1:c.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA NP_001354176.1:n.1572+4800_1572+4801insAGAGGAGGATGAAGAAGGGGA
NM_001367248.1:c.1602+4800_1602+4801insAGAGGAGGATGAAGAAGGGGA NP_001354177.1:n.1602+4800_1602+4801insAGAGGAGGATGAAGAAGGGGA
NM_001367249.1:c.1569+4800_1569+4801insAGAGGAGGATGAAGAAGGGGA NP_001354178.1:n.1569+4800_1569+4801insAGAGGAGGATGAAGAAGGGGA
NM_001367250.1:c.1569+4800_1569+4801insAGAGGAGGATGAAGAAGGGGA NP_001354179.1:n.1569+4800_1569+4801insAGAGGAGGATGAAGAAGGGGA
NM_001367251.1:c.1386+4800_1386+4801insAGAGGAGGATGAAGAAGGGGA NP_001354180.1:n.1386+4800_1386+4801insAGAGGAGGATGAAGAAGGGGA
NR_159803.1:n.2263+935_2263+936insAGAGGAGGATGAAGAAGGGGA
NR_159804.1:n.1648+4800_1648+4801insAGAGGAGGATGAAGAAGGGGA
NR_159805.1:n.1714+4800_1714+4801insAGAGGAGGATGAAGAAGGGGA
NR_159806.1:n.1866+935_1866+936insAGAGGAGGATGAAGAAGGGGA
NR_159807.1:n.1622+4800_1622+4801insAGAGGAGGATGAAGAAGGGGA
NR_159808.1:n.1826+4800_1826+4801insAGAGGAGGATGAAGAAGGGGA
NM_000328.3:c.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA NP_000319.1:n.1905+935_1905+936insAGAGGAGGATGAAGAAGGGGA
NM_001034853.2:c.2840_2841insAGAGGAGGATGAAGAAGGGGA MANE Select NP_001030025.1:p.Glu947_Gly948insGluGluAspGluGluGlyGlu