Canonical Allele Identifier: CA2424844424
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286123_38286177delinsTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCC , CM000685.2:g.38286123_38286177delinsTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCC GRCh38
NC_000023.10:g.38145376_38145430delinsTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCC , CM000685.1:g.38145376_38145430delinsTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCC GRCh37
NC_000023.9:g.38030320_38030374delinsTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCC NCBI36
NG_009553.1:g.46359_46413delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1688_953+1742delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
ENST00000642170.1:n.1826+4782_1826+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
ENST00000642395.2:c.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000493468.2:n.1905+917_1905+971delinsGGGAGGATGGAGAAGGGG...
ENST00000642739.1:c.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000493596.1:n.1572+4782_1572+4836delinsGGGAGGATGGAGAAGG...
ENST00000644238.1:c.1386+4782_1386+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000496728.1:n.1386+4782_1386+4836delinsGGGAGGATGGAGAAGG...
ENST00000644337.1:c.1719+917_1719+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000494557.1:n.1719+917_1719+971delinsGGGAGGATGGAGAAGGGG...
ENST00000645032.1:c.2822_2876delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA MANE Select ENSP00000495537.1:p.Gly941=
ENST00000645124.1:c.*101+917_*101+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000496446.1:n.*101+917_*101+971delinsGGGAGGATGGAGAAGGGG...
ENST00000646020.1:c.*594+917_*594+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000494745.1:n.*594+917_*594+971delinsGGGAGGATGGAGAAGGGG...
ENST00000318842.11:c.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000322219.6:n.1905+917_1905+971delinsGGGAGGATGGAGAAGGGG...
ENST00000339363.7:c.2520+917_2520+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000343671.3:n.2520+917_2520+971delinsGGGAGGATGGAGAAGGGG...
ENST00000378505.6:c.2822_2876delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000367766.2:p.Gly941=
ENST00000465127.1:c.172-379998_172-379944delinsTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCC ENSP00000417050.1:n.172-379998_172-379944delinsTCTTCCCCCTCCCA...
ENST00000474584.5:c.*37+4782_*37+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000418926.1:n.*37+4782_*37+4836delinsGGGAGGATGGAGAAGGGG...
ENST00000482855.5:c.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA ENSP00000419276.1:n.1905+917_1905+971delinsGGGAGGATGGAGAAGGGG...
ENST00000494707.5:c.139+4782_139+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NM_000328.2:c.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_000319.1:n.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGG...
NM_001034853.1:c.2822_2876delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001030025.1:p.Gly941=
XM_005272633.1:c.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA XP_005272690.1:n.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGA...
XM_011543940.1:c.1902+917_1902+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA XP_011542242.1:n.1902+917_1902+971delinsGGGAGGATGGAGAAGGGGAGG...
XM_005272633.3:c.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA XP_005272690.1:n.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGA...
XM_011543940.3:c.1902+917_1902+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA XP_011542242.1:n.1902+917_1902+971delinsGGGAGGATGGAGAAGGGGAGG...
XM_017029712.2:c.1569+4782_1569+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA XP_016885201.1:n.1569+4782_1569+4836delinsGGGAGGATGGAGAAGGGGA...
NM_001367245.1:c.1902+917_1902+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354174.1:n.1902+917_1902+971delinsGGGAGGATGGAGAAGGGGAGG...
NM_001367246.1:c.1719+917_1719+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354175.1:n.1719+917_1719+971delinsGGGAGGATGGAGAAGGGGAGG...
NM_001367247.1:c.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354176.1:n.1572+4782_1572+4836delinsGGGAGGATGGAGAAGGGGA...
NM_001367248.1:c.1602+4782_1602+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354177.1:n.1602+4782_1602+4836delinsGGGAGGATGGAGAAGGGGA...
NM_001367249.1:c.1569+4782_1569+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354178.1:n.1569+4782_1569+4836delinsGGGAGGATGGAGAAGGGGA...
NM_001367250.1:c.1569+4782_1569+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354179.1:n.1569+4782_1569+4836delinsGGGAGGATGGAGAAGGGGA...
NM_001367251.1:c.1386+4782_1386+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_001354180.1:n.1386+4782_1386+4836delinsGGGAGGATGGAGAAGGGGA...
NR_159803.1:n.2263+917_2263+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NR_159804.1:n.1648+4782_1648+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NR_159805.1:n.1714+4782_1714+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NR_159806.1:n.1866+917_1866+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NR_159807.1:n.1622+4782_1622+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NR_159808.1:n.1826+4782_1826+4836delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA
NM_000328.3:c.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA NP_000319.1:n.1905+917_1905+971delinsGGGAGGATGGAGAAGGGGAGGGGG...
NM_001034853.2:c.2822_2876delinsGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAGA MANE Select NP_001030025.1:p.Gly941=