Canonical Allele Identifier: CA2424844265
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285964_38285965delinsTC , CM000685.2:g.38285964_38285965delinsTC GRCh38
NC_000023.10:g.38145217_38145218delinsTC , CM000685.1:g.38145217_38145218delinsTC GRCh37
NC_000023.9:g.38030161_38030162delinsTC NCBI36
NG_009553.1:g.46571_46572delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1900_953+1901delinsGA
ENST00000642170.1:n.1826+4994_1826+4995delinsGA
ENST00000642395.2:c.1905+1129_1905+1130delinsGA ENSP00000493468.2:n.1905+1129_1905+1130delinsGA
ENST00000642739.1:c.1572+4994_1572+4995delinsGA ENSP00000493596.1:n.1572+4994_1572+4995delinsGA
ENST00000644238.1:c.1386+4994_1386+4995delinsGA ENSP00000496728.1:n.1386+4994_1386+4995delinsGA
ENST00000644337.1:c.1719+1129_1719+1130delinsGA ENSP00000494557.1:n.1719+1129_1719+1130delinsGA
ENST00000645032.1:c.3034_3035delinsGA MANE Select ENSP00000495537.1:p.Glu1012=
ENST00000645124.1:c.*101+1129_*101+1130delinsGA ENSP00000496446.1:n.*101+1129_*101+1130delinsGA
ENST00000646020.1:c.*594+1129_*594+1130delinsGA ENSP00000494745.1:n.*594+1129_*594+1130delinsGA
ENST00000318842.11:c.1905+1129_1905+1130delinsGA ENSP00000322219.6:n.1905+1129_1905+1130delinsGA
ENST00000339363.7:c.2520+1129_2520+1130delinsGA ENSP00000343671.3:n.2520+1129_2520+1130delinsGA
ENST00000378505.6:c.3034_3035delinsGA ENSP00000367766.2:p.Glu1012=
ENST00000465127.1:c.172-380157_172-380156delinsTC ENSP00000417050.1:n.172-380157_172-380156delinsTC
ENST00000474584.5:c.*37+4994_*37+4995delinsGA ENSP00000418926.1:n.*37+4994_*37+4995delinsGA
ENST00000482855.5:c.1905+1129_1905+1130delinsGA ENSP00000419276.1:n.1905+1129_1905+1130delinsGA
ENST00000494707.5:c.139+4994_139+4995delinsGA
NM_000328.2:c.1905+1129_1905+1130delinsGA NP_000319.1:n.1905+1129_1905+1130delinsGA
NM_001034853.1:c.3034_3035delinsGA NP_001030025.1:p.Glu1012=
XM_005272633.1:c.1572+4994_1572+4995delinsGA XP_005272690.1:n.1572+4994_1572+4995delinsGA
XM_011543940.1:c.1902+1129_1902+1130delinsGA XP_011542242.1:n.1902+1129_1902+1130delinsGA
XM_005272633.3:c.1572+4994_1572+4995delinsGA XP_005272690.1:n.1572+4994_1572+4995delinsGA
XM_011543940.3:c.1902+1129_1902+1130delinsGA XP_011542242.1:n.1902+1129_1902+1130delinsGA
XM_017029712.2:c.1569+4994_1569+4995delinsGA XP_016885201.1:n.1569+4994_1569+4995delinsGA
NM_001367245.1:c.1902+1129_1902+1130delinsGA NP_001354174.1:n.1902+1129_1902+1130delinsGA
NM_001367246.1:c.1719+1129_1719+1130delinsGA NP_001354175.1:n.1719+1129_1719+1130delinsGA
NM_001367247.1:c.1572+4994_1572+4995delinsGA NP_001354176.1:n.1572+4994_1572+4995delinsGA
NM_001367248.1:c.1602+4994_1602+4995delinsGA NP_001354177.1:n.1602+4994_1602+4995delinsGA
NM_001367249.1:c.1569+4994_1569+4995delinsGA NP_001354178.1:n.1569+4994_1569+4995delinsGA
NM_001367250.1:c.1569+4994_1569+4995delinsGA NP_001354179.1:n.1569+4994_1569+4995delinsGA
NM_001367251.1:c.1386+4994_1386+4995delinsGA NP_001354180.1:n.1386+4994_1386+4995delinsGA
NR_159803.1:n.2263+1129_2263+1130delinsGA
NR_159804.1:n.1648+4994_1648+4995delinsGA
NR_159805.1:n.1714+4994_1714+4995delinsGA
NR_159806.1:n.1866+1129_1866+1130delinsGA
NR_159807.1:n.1622+4994_1622+4995delinsGA
NR_159808.1:n.1826+4994_1826+4995delinsGA
NM_000328.3:c.1905+1129_1905+1130delinsGA NP_000319.1:n.1905+1129_1905+1130delinsGA
NM_001034853.2:c.3034_3035delinsGA MANE Select NP_001030025.1:p.Glu1012=