Canonical Allele Identifier: CA2424844115
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285743_38285744delinsTG , CM000685.2:g.38285743_38285744delinsTG GRCh38
NC_000023.10:g.38144996_38144997delinsTG , CM000685.1:g.38144996_38144997delinsTG GRCh37
NC_000023.9:g.38029940_38029941delinsTG NCBI36
NG_009553.1:g.46792_46793delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+2121_953+2122delinsCA
ENST00000642170.1:n.1826+5215_1826+5216delinsCA
ENST00000642395.2:c.1905+1350_1905+1351delinsCA ENSP00000493468.2:n.1905+1350_1905+1351delinsCA
ENST00000642739.1:c.1572+5215_1572+5216delinsCA ENSP00000493596.1:n.1572+5215_1572+5216delinsCA
ENST00000644238.1:c.1386+5215_1386+5216delinsCA ENSP00000496728.1:n.1386+5215_1386+5216delinsCA
ENST00000644337.1:c.1719+1350_1719+1351delinsCA ENSP00000494557.1:n.1719+1350_1719+1351delinsCA
ENST00000645032.1:c.3255_3256delinsCA MANE Select ENSP00000495537.1:p.Tyr1085=
ENST00000645124.1:c.*101+1350_*101+1351delinsCA ENSP00000496446.1:n.*101+1350_*101+1351delinsCA
ENST00000646020.1:c.*594+1350_*594+1351delinsCA ENSP00000494745.1:n.*594+1350_*594+1351delinsCA
ENST00000318842.11:c.1905+1350_1905+1351delinsCA ENSP00000322219.6:n.1905+1350_1905+1351delinsCA
ENST00000339363.7:c.2520+1350_2520+1351delinsCA ENSP00000343671.3:n.2520+1350_2520+1351delinsCA
ENST00000378505.6:c.3255_3256delinsCA ENSP00000367766.2:p.Tyr1085=
ENST00000465127.1:c.172-380378_172-380377delinsTG ENSP00000417050.1:n.172-380378_172-380377delinsTG
ENST00000474584.5:c.*37+5215_*37+5216delinsCA ENSP00000418926.1:n.*37+5215_*37+5216delinsCA
ENST00000482855.5:c.1905+1350_1905+1351delinsCA ENSP00000419276.1:n.1905+1350_1905+1351delinsCA
ENST00000494707.5:c.139+5215_139+5216delinsCA
NM_000328.2:c.1905+1350_1905+1351delinsCA NP_000319.1:n.1905+1350_1905+1351delinsCA
NM_001034853.1:c.3255_3256delinsCA NP_001030025.1:p.Tyr1085=
XM_005272633.1:c.1572+5215_1572+5216delinsCA XP_005272690.1:n.1572+5215_1572+5216delinsCA
XM_011543940.1:c.1902+1350_1902+1351delinsCA XP_011542242.1:n.1902+1350_1902+1351delinsCA
XM_005272633.3:c.1572+5215_1572+5216delinsCA XP_005272690.1:n.1572+5215_1572+5216delinsCA
XM_011543940.3:c.1902+1350_1902+1351delinsCA XP_011542242.1:n.1902+1350_1902+1351delinsCA
XM_017029712.2:c.1569+5215_1569+5216delinsCA XP_016885201.1:n.1569+5215_1569+5216delinsCA
NM_001367245.1:c.1902+1350_1902+1351delinsCA NP_001354174.1:n.1902+1350_1902+1351delinsCA
NM_001367246.1:c.1719+1350_1719+1351delinsCA NP_001354175.1:n.1719+1350_1719+1351delinsCA
NM_001367247.1:c.1572+5215_1572+5216delinsCA NP_001354176.1:n.1572+5215_1572+5216delinsCA
NM_001367248.1:c.1602+5215_1602+5216delinsCA NP_001354177.1:n.1602+5215_1602+5216delinsCA
NM_001367249.1:c.1569+5215_1569+5216delinsCA NP_001354178.1:n.1569+5215_1569+5216delinsCA
NM_001367250.1:c.1569+5215_1569+5216delinsCA NP_001354179.1:n.1569+5215_1569+5216delinsCA
NM_001367251.1:c.1386+5215_1386+5216delinsCA NP_001354180.1:n.1386+5215_1386+5216delinsCA
NR_159803.1:n.2263+1350_2263+1351delinsCA
NR_159804.1:n.1648+5215_1648+5216delinsCA
NR_159805.1:n.1714+5215_1714+5216delinsCA
NR_159806.1:n.1866+1350_1866+1351delinsCA
NR_159807.1:n.1622+5215_1622+5216delinsCA
NR_159808.1:n.1826+5215_1826+5216delinsCA
NM_000328.3:c.1905+1350_1905+1351delinsCA NP_000319.1:n.1905+1350_1905+1351delinsCA
NM_001034853.2:c.3255_3256delinsCA MANE Select NP_001030025.1:p.Tyr1085=