Canonical Allele Identifier: CA2424844538
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286246_38286249delinsTCTC , CM000685.2:g.38286246_38286249delinsTCTC GRCh38
NC_000023.10:g.38145499_38145502delinsTCTC , CM000685.1:g.38145499_38145502delinsTCTC GRCh37
NC_000023.9:g.38030443_38030446delinsTCTC NCBI36
NG_009553.1:g.46287_46290delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1616_953+1619delinsGAGA
ENST00000642170.1:n.1826+4710_1826+4713delinsGAGA
ENST00000642395.2:c.1905+845_1905+848delinsGAGA ENSP00000493468.2:n.1905+845_1905+848delinsGAGA
ENST00000642739.1:c.1572+4710_1572+4713delinsGAGA ENSP00000493596.1:n.1572+4710_1572+4713delinsGAGA
ENST00000644238.1:c.1386+4710_1386+4713delinsGAGA ENSP00000496728.1:n.1386+4710_1386+4713delinsGAGA
ENST00000644337.1:c.1719+845_1719+848delinsGAGA ENSP00000494557.1:n.1719+845_1719+848delinsGAGA
ENST00000645032.1:c.2750_2753delinsGAGA MANE Select ENSP00000495537.1:p.Gly917=
ENST00000645124.1:c.*101+845_*101+848delinsGAGA ENSP00000496446.1:n.*101+845_*101+848delinsGAGA
ENST00000646020.1:c.*594+845_*594+848delinsGAGA ENSP00000494745.1:n.*594+845_*594+848delinsGAGA
ENST00000318842.11:c.1905+845_1905+848delinsGAGA ENSP00000322219.6:n.1905+845_1905+848delinsGAGA
ENST00000339363.7:c.2520+845_2520+848delinsGAGA ENSP00000343671.3:n.2520+845_2520+848delinsGAGA
ENST00000378505.6:c.2750_2753delinsGAGA ENSP00000367766.2:p.Gly917=
ENST00000465127.1:c.172-379875_172-379872delinsTCTC ENSP00000417050.1:n.172-379875_172-379872delinsTCTC
ENST00000474584.5:c.*37+4710_*37+4713delinsGAGA ENSP00000418926.1:n.*37+4710_*37+4713delinsGAGA
ENST00000482855.5:c.1905+845_1905+848delinsGAGA ENSP00000419276.1:n.1905+845_1905+848delinsGAGA
ENST00000494707.5:c.139+4710_139+4713delinsGAGA
NM_000328.2:c.1905+845_1905+848delinsGAGA NP_000319.1:n.1905+845_1905+848delinsGAGA
NM_001034853.1:c.2750_2753delinsGAGA NP_001030025.1:p.Gly917=
XM_005272633.1:c.1572+4710_1572+4713delinsGAGA XP_005272690.1:n.1572+4710_1572+4713delinsGAGA
XM_011543940.1:c.1902+845_1902+848delinsGAGA XP_011542242.1:n.1902+845_1902+848delinsGAGA
XM_005272633.3:c.1572+4710_1572+4713delinsGAGA XP_005272690.1:n.1572+4710_1572+4713delinsGAGA
XM_011543940.3:c.1902+845_1902+848delinsGAGA XP_011542242.1:n.1902+845_1902+848delinsGAGA
XM_017029712.2:c.1569+4710_1569+4713delinsGAGA XP_016885201.1:n.1569+4710_1569+4713delinsGAGA
NM_001367245.1:c.1902+845_1902+848delinsGAGA NP_001354174.1:n.1902+845_1902+848delinsGAGA
NM_001367246.1:c.1719+845_1719+848delinsGAGA NP_001354175.1:n.1719+845_1719+848delinsGAGA
NM_001367247.1:c.1572+4710_1572+4713delinsGAGA NP_001354176.1:n.1572+4710_1572+4713delinsGAGA
NM_001367248.1:c.1602+4710_1602+4713delinsGAGA NP_001354177.1:n.1602+4710_1602+4713delinsGAGA
NM_001367249.1:c.1569+4710_1569+4713delinsGAGA NP_001354178.1:n.1569+4710_1569+4713delinsGAGA
NM_001367250.1:c.1569+4710_1569+4713delinsGAGA NP_001354179.1:n.1569+4710_1569+4713delinsGAGA
NM_001367251.1:c.1386+4710_1386+4713delinsGAGA NP_001354180.1:n.1386+4710_1386+4713delinsGAGA
NR_159803.1:n.2263+845_2263+848delinsGAGA
NR_159804.1:n.1648+4710_1648+4713delinsGAGA
NR_159805.1:n.1714+4710_1714+4713delinsGAGA
NR_159806.1:n.1866+845_1866+848delinsGAGA
NR_159807.1:n.1622+4710_1622+4713delinsGAGA
NR_159808.1:n.1826+4710_1826+4713delinsGAGA
NM_000328.3:c.1905+845_1905+848delinsGAGA NP_000319.1:n.1905+845_1905+848delinsGAGA
NM_001034853.2:c.2750_2753delinsGAGA MANE Select NP_001030025.1:p.Gly917=