Canonical Allele Identifier: CA2424844426
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286125_38286173delinsTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCC , CM000685.2:g.38286125_38286173delinsTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCC GRCh38
NC_000023.10:g.38145378_38145426delinsTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCC , CM000685.1:g.38145378_38145426delinsTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCC GRCh37
NC_000023.9:g.38030322_38030370delinsTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCC NCBI36
NG_009553.1:g.46363_46411delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1692_953+1740delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
ENST00000642170.1:n.1826+4786_1826+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
ENST00000642395.2:c.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000493468.2:n.1905+921_1905+969delinsGGATGGAGAAGGGGAGGG...
ENST00000642739.1:c.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000493596.1:n.1572+4786_1572+4834delinsGGATGGAGAAGGGGAG...
ENST00000644238.1:c.1386+4786_1386+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000496728.1:n.1386+4786_1386+4834delinsGGATGGAGAAGGGGAG...
ENST00000644337.1:c.1719+921_1719+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000494557.1:n.1719+921_1719+969delinsGGATGGAGAAGGGGAGGG...
ENST00000645032.1:c.2826_2874delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA MANE Select ENSP00000495537.1:p.Glu942=
ENST00000645124.1:c.*101+921_*101+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000496446.1:n.*101+921_*101+969delinsGGATGGAGAAGGGGAGGG...
ENST00000646020.1:c.*594+921_*594+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000494745.1:n.*594+921_*594+969delinsGGATGGAGAAGGGGAGGG...
ENST00000318842.11:c.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000322219.6:n.1905+921_1905+969delinsGGATGGAGAAGGGGAGGG...
ENST00000339363.7:c.2520+921_2520+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000343671.3:n.2520+921_2520+969delinsGGATGGAGAAGGGGAGGG...
ENST00000378505.6:c.2826_2874delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000367766.2:p.Glu942=
ENST00000465127.1:c.172-379996_172-379948delinsTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCC ENSP00000417050.1:n.172-379996_172-379948delinsTTCCCCCTCCCATT...
ENST00000474584.5:c.*37+4786_*37+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000418926.1:n.*37+4786_*37+4834delinsGGATGGAGAAGGGGAGGG...
ENST00000482855.5:c.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA ENSP00000419276.1:n.1905+921_1905+969delinsGGATGGAGAAGGGGAGGG...
ENST00000494707.5:c.139+4786_139+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NM_000328.2:c.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_000319.1:n.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGA...
NM_001034853.1:c.2826_2874delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001030025.1:p.Glu942=
XM_005272633.1:c.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA XP_005272690.1:n.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGG...
XM_011543940.1:c.1902+921_1902+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA XP_011542242.1:n.1902+921_1902+969delinsGGATGGAGAAGGGGAGGGGGA...
XM_005272633.3:c.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA XP_005272690.1:n.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGG...
XM_011543940.3:c.1902+921_1902+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA XP_011542242.1:n.1902+921_1902+969delinsGGATGGAGAAGGGGAGGGGGA...
XM_017029712.2:c.1569+4786_1569+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA XP_016885201.1:n.1569+4786_1569+4834delinsGGATGGAGAAGGGGAGGGG...
NM_001367245.1:c.1902+921_1902+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354174.1:n.1902+921_1902+969delinsGGATGGAGAAGGGGAGGGGGA...
NM_001367246.1:c.1719+921_1719+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354175.1:n.1719+921_1719+969delinsGGATGGAGAAGGGGAGGGGGA...
NM_001367247.1:c.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354176.1:n.1572+4786_1572+4834delinsGGATGGAGAAGGGGAGGGG...
NM_001367248.1:c.1602+4786_1602+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354177.1:n.1602+4786_1602+4834delinsGGATGGAGAAGGGGAGGGG...
NM_001367249.1:c.1569+4786_1569+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354178.1:n.1569+4786_1569+4834delinsGGATGGAGAAGGGGAGGGG...
NM_001367250.1:c.1569+4786_1569+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354179.1:n.1569+4786_1569+4834delinsGGATGGAGAAGGGGAGGGG...
NM_001367251.1:c.1386+4786_1386+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_001354180.1:n.1386+4786_1386+4834delinsGGATGGAGAAGGGGAGGGG...
NR_159803.1:n.2263+921_2263+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NR_159804.1:n.1648+4786_1648+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NR_159805.1:n.1714+4786_1714+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NR_159806.1:n.1866+921_1866+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NR_159807.1:n.1622+4786_1622+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NR_159808.1:n.1826+4786_1826+4834delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA
NM_000328.3:c.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA NP_000319.1:n.1905+921_1905+969delinsGGATGGAGAAGGGGAGGGGGAAGA...
NM_001034853.2:c.2826_2874delinsGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAA MANE Select NP_001030025.1:p.Glu942=