Canonical Allele Identifier: CA2424844649
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286375_38286378delinsTCTC , CM000685.2:g.38286375_38286378delinsTCTC GRCh38
NC_000023.10:g.38145628_38145631delinsTCTC , CM000685.1:g.38145628_38145631delinsTCTC GRCh37
NC_000023.9:g.38030572_38030575delinsTCTC NCBI36
NG_009553.1:g.46158_46161delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1487_953+1490delinsGAGA
ENST00000642170.1:n.1826+4581_1826+4584delinsGAGA
ENST00000642395.2:c.1905+716_1905+719delinsGAGA ENSP00000493468.2:n.1905+716_1905+719delinsGAGA
ENST00000642739.1:c.1572+4581_1572+4584delinsGAGA ENSP00000493596.1:n.1572+4581_1572+4584delinsGAGA
ENST00000644238.1:c.1386+4581_1386+4584delinsGAGA ENSP00000496728.1:n.1386+4581_1386+4584delinsGAGA
ENST00000644337.1:c.1719+716_1719+719delinsGAGA ENSP00000494557.1:n.1719+716_1719+719delinsGAGA
ENST00000645032.1:c.2621_2624delinsGAGA MANE Select ENSP00000495537.1:p.Gly874=
ENST00000645124.1:c.*101+716_*101+719delinsGAGA ENSP00000496446.1:n.*101+716_*101+719delinsGAGA
ENST00000646020.1:c.*594+716_*594+719delinsGAGA ENSP00000494745.1:n.*594+716_*594+719delinsGAGA
ENST00000318842.11:c.1905+716_1905+719delinsGAGA ENSP00000322219.6:n.1905+716_1905+719delinsGAGA
ENST00000339363.7:c.2520+716_2520+719delinsGAGA ENSP00000343671.3:n.2520+716_2520+719delinsGAGA
ENST00000378505.6:c.2621_2624delinsGAGA ENSP00000367766.2:p.Gly874=
ENST00000465127.1:c.172-379746_172-379743delinsTCTC ENSP00000417050.1:n.172-379746_172-379743delinsTCTC
ENST00000474584.5:c.*37+4581_*37+4584delinsGAGA ENSP00000418926.1:n.*37+4581_*37+4584delinsGAGA
ENST00000482855.5:c.1905+716_1905+719delinsGAGA ENSP00000419276.1:n.1905+716_1905+719delinsGAGA
ENST00000494707.5:c.139+4581_139+4584delinsGAGA
NM_000328.2:c.1905+716_1905+719delinsGAGA NP_000319.1:n.1905+716_1905+719delinsGAGA
NM_001034853.1:c.2621_2624delinsGAGA NP_001030025.1:p.Gly874=
XM_005272633.1:c.1572+4581_1572+4584delinsGAGA XP_005272690.1:n.1572+4581_1572+4584delinsGAGA
XM_011543940.1:c.1902+716_1902+719delinsGAGA XP_011542242.1:n.1902+716_1902+719delinsGAGA
XM_005272633.3:c.1572+4581_1572+4584delinsGAGA XP_005272690.1:n.1572+4581_1572+4584delinsGAGA
XM_011543940.3:c.1902+716_1902+719delinsGAGA XP_011542242.1:n.1902+716_1902+719delinsGAGA
XM_017029712.2:c.1569+4581_1569+4584delinsGAGA XP_016885201.1:n.1569+4581_1569+4584delinsGAGA
NM_001367245.1:c.1902+716_1902+719delinsGAGA NP_001354174.1:n.1902+716_1902+719delinsGAGA
NM_001367246.1:c.1719+716_1719+719delinsGAGA NP_001354175.1:n.1719+716_1719+719delinsGAGA
NM_001367247.1:c.1572+4581_1572+4584delinsGAGA NP_001354176.1:n.1572+4581_1572+4584delinsGAGA
NM_001367248.1:c.1602+4581_1602+4584delinsGAGA NP_001354177.1:n.1602+4581_1602+4584delinsGAGA
NM_001367249.1:c.1569+4581_1569+4584delinsGAGA NP_001354178.1:n.1569+4581_1569+4584delinsGAGA
NM_001367250.1:c.1569+4581_1569+4584delinsGAGA NP_001354179.1:n.1569+4581_1569+4584delinsGAGA
NM_001367251.1:c.1386+4581_1386+4584delinsGAGA NP_001354180.1:n.1386+4581_1386+4584delinsGAGA
NR_159803.1:n.2263+716_2263+719delinsGAGA
NR_159804.1:n.1648+4581_1648+4584delinsGAGA
NR_159805.1:n.1714+4581_1714+4584delinsGAGA
NR_159806.1:n.1866+716_1866+719delinsGAGA
NR_159807.1:n.1622+4581_1622+4584delinsGAGA
NR_159808.1:n.1826+4581_1826+4584delinsGAGA
NM_000328.3:c.1905+716_1905+719delinsGAGA NP_000319.1:n.1905+716_1905+719delinsGAGA
NM_001034853.2:c.2621_2624delinsGAGA MANE Select NP_001030025.1:p.Gly874=