Canonical Allele Identifier: CA2424844674
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286396_38286398delinsTCC , CM000685.2:g.38286396_38286398delinsTCC GRCh38
NC_000023.10:g.38145649_38145651delinsTCC , CM000685.1:g.38145649_38145651delinsTCC GRCh37
NC_000023.9:g.38030593_38030595delinsTCC NCBI36
NG_009553.1:g.46138_46140delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1467_953+1469delinsGGA
ENST00000642170.1:n.1826+4561_1826+4563delinsGGA
ENST00000642395.2:c.1905+696_1905+698delinsGGA ENSP00000493468.2:n.1905+696_1905+698delinsGGA
ENST00000642739.1:c.1572+4561_1572+4563delinsGGA ENSP00000493596.1:n.1572+4561_1572+4563delinsGGA
ENST00000644238.1:c.1386+4561_1386+4563delinsGGA ENSP00000496728.1:n.1386+4561_1386+4563delinsGGA
ENST00000644337.1:c.1719+696_1719+698delinsGGA ENSP00000494557.1:n.1719+696_1719+698delinsGGA
ENST00000645032.1:c.2601_2603delinsGGA MANE Select ENSP00000495537.1:p.Gly867=
ENST00000645124.1:c.*101+696_*101+698delinsGGA ENSP00000496446.1:n.*101+696_*101+698delinsGGA
ENST00000646020.1:c.*594+696_*594+698delinsGGA ENSP00000494745.1:n.*594+696_*594+698delinsGGA
ENST00000318842.11:c.1905+696_1905+698delinsGGA ENSP00000322219.6:n.1905+696_1905+698delinsGGA
ENST00000339363.7:c.2520+696_2520+698delinsGGA ENSP00000343671.3:n.2520+696_2520+698delinsGGA
ENST00000378505.6:c.2601_2603delinsGGA ENSP00000367766.2:p.Gly867=
ENST00000465127.1:c.172-379725_172-379723delinsTCC ENSP00000417050.1:n.172-379725_172-379723delinsTCC
ENST00000474584.5:c.*37+4561_*37+4563delinsGGA ENSP00000418926.1:n.*37+4561_*37+4563delinsGGA
ENST00000482855.5:c.1905+696_1905+698delinsGGA ENSP00000419276.1:n.1905+696_1905+698delinsGGA
ENST00000494707.5:c.139+4561_139+4563delinsGGA
NM_000328.2:c.1905+696_1905+698delinsGGA NP_000319.1:n.1905+696_1905+698delinsGGA
NM_001034853.1:c.2601_2603delinsGGA NP_001030025.1:p.Gly867=
XM_005272633.1:c.1572+4561_1572+4563delinsGGA XP_005272690.1:n.1572+4561_1572+4563delinsGGA
XM_011543940.1:c.1902+696_1902+698delinsGGA XP_011542242.1:n.1902+696_1902+698delinsGGA
XM_005272633.3:c.1572+4561_1572+4563delinsGGA XP_005272690.1:n.1572+4561_1572+4563delinsGGA
XM_011543940.3:c.1902+696_1902+698delinsGGA XP_011542242.1:n.1902+696_1902+698delinsGGA
XM_017029712.2:c.1569+4561_1569+4563delinsGGA XP_016885201.1:n.1569+4561_1569+4563delinsGGA
NM_001367245.1:c.1902+696_1902+698delinsGGA NP_001354174.1:n.1902+696_1902+698delinsGGA
NM_001367246.1:c.1719+696_1719+698delinsGGA NP_001354175.1:n.1719+696_1719+698delinsGGA
NM_001367247.1:c.1572+4561_1572+4563delinsGGA NP_001354176.1:n.1572+4561_1572+4563delinsGGA
NM_001367248.1:c.1602+4561_1602+4563delinsGGA NP_001354177.1:n.1602+4561_1602+4563delinsGGA
NM_001367249.1:c.1569+4561_1569+4563delinsGGA NP_001354178.1:n.1569+4561_1569+4563delinsGGA
NM_001367250.1:c.1569+4561_1569+4563delinsGGA NP_001354179.1:n.1569+4561_1569+4563delinsGGA
NM_001367251.1:c.1386+4561_1386+4563delinsGGA NP_001354180.1:n.1386+4561_1386+4563delinsGGA
NR_159803.1:n.2263+696_2263+698delinsGGA
NR_159804.1:n.1648+4561_1648+4563delinsGGA
NR_159805.1:n.1714+4561_1714+4563delinsGGA
NR_159806.1:n.1866+696_1866+698delinsGGA
NR_159807.1:n.1622+4561_1622+4563delinsGGA
NR_159808.1:n.1826+4561_1826+4563delinsGGA
NM_000328.3:c.1905+696_1905+698delinsGGA NP_000319.1:n.1905+696_1905+698delinsGGA
NM_001034853.2:c.2601_2603delinsGGA MANE Select NP_001030025.1:p.Gly867=