Canonical Allele Identifier: CA2695232636
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286387_38286388dup , CM000685.2:g.38286387_38286388dup GRCh38
NC_000023.10:g.38145640_38145641dup , CM000685.1:g.38145640_38145641dup GRCh37
NC_000023.9:g.38030584_38030585dup NCBI36
NG_009553.1:g.46150_46151dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1479_953+1480dup
ENST00000642170.1:n.1826+4573_1826+4574dup
ENST00000642395.2:c.1905+708_1905+709dup ENSP00000493468.2:n.1905+708_1905+709dup
ENST00000642739.1:c.1572+4573_1572+4574dup ENSP00000493596.1:n.1572+4573_1572+4574dup
ENST00000644238.1:c.1386+4573_1386+4574dup ENSP00000496728.1:n.1386+4573_1386+4574dup
ENST00000644337.1:c.1719+708_1719+709dup ENSP00000494557.1:n.1719+708_1719+709dup
ENST00000645032.1:c.2613_2614dup MANE Select ENSP00000495537.1:p.Glu872GlyfsTer?
ENST00000645124.1:c.*101+708_*101+709dup ENSP00000496446.1:n.*101+708_*101+709dup
ENST00000646020.1:c.*594+708_*594+709dup ENSP00000494745.1:n.*594+708_*594+709dup
ENST00000318842.11:c.1905+708_1905+709dup ENSP00000322219.6:n.1905+708_1905+709dup
ENST00000339363.7:c.2520+708_2520+709dup ENSP00000343671.3:n.2520+708_2520+709dup
ENST00000378505.6:c.2613_2614dup ENSP00000367766.2:p.Glu872GlyfsTer?
ENST00000465127.1:c.172-379734_172-379733dup ENSP00000417050.1:n.172-379734_172-379733dup
ENST00000474584.5:c.*37+4573_*37+4574dup ENSP00000418926.1:n.*37+4573_*37+4574dup
ENST00000482855.5:c.1905+708_1905+709dup ENSP00000419276.1:n.1905+708_1905+709dup
ENST00000494707.5:c.139+4573_139+4574dup
NM_000328.2:c.1905+708_1905+709dup NP_000319.1:n.1905+708_1905+709dup
NM_001034853.1:c.2613_2614dup NP_001030025.1:p.Glu872GlyfsTer?
XM_005272633.1:c.1572+4573_1572+4574dup XP_005272690.1:n.1572+4573_1572+4574dup
XM_011543940.1:c.1902+708_1902+709dup XP_011542242.1:n.1902+708_1902+709dup
XM_005272633.3:c.1572+4573_1572+4574dup XP_005272690.1:n.1572+4573_1572+4574dup
XM_011543940.3:c.1902+708_1902+709dup XP_011542242.1:n.1902+708_1902+709dup
XM_017029712.2:c.1569+4573_1569+4574dup XP_016885201.1:n.1569+4573_1569+4574dup
NM_001367245.1:c.1902+708_1902+709dup NP_001354174.1:n.1902+708_1902+709dup
NM_001367246.1:c.1719+708_1719+709dup NP_001354175.1:n.1719+708_1719+709dup
NM_001367247.1:c.1572+4573_1572+4574dup NP_001354176.1:n.1572+4573_1572+4574dup
NM_001367248.1:c.1602+4573_1602+4574dup NP_001354177.1:n.1602+4573_1602+4574dup
NM_001367249.1:c.1569+4573_1569+4574dup NP_001354178.1:n.1569+4573_1569+4574dup
NM_001367250.1:c.1569+4573_1569+4574dup NP_001354179.1:n.1569+4573_1569+4574dup
NM_001367251.1:c.1386+4573_1386+4574dup NP_001354180.1:n.1386+4573_1386+4574dup
NR_159803.1:n.2263+708_2263+709dup
NR_159804.1:n.1648+4573_1648+4574dup
NR_159805.1:n.1714+4573_1714+4574dup
NR_159806.1:n.1866+708_1866+709dup
NR_159807.1:n.1622+4573_1622+4574dup
NR_159808.1:n.1826+4573_1826+4574dup
NM_000328.3:c.1905+708_1905+709dup NP_000319.1:n.1905+708_1905+709dup
NM_001034853.2:c.2613_2614dup MANE Select NP_001030025.1:p.Glu872GlyfsTer?