Canonical Allele Identifier: CA2424844464
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286167_38286182delinsTCCATCCTCCCCTTCC , CM000685.2:g.38286167_38286182delinsTCCATCCTCCCCTTCC GRCh38
NC_000023.10:g.38145420_38145435delinsTCCATCCTCCCCTTCC , CM000685.1:g.38145420_38145435delinsTCCATCCTCCCCTTCC GRCh37
NC_000023.9:g.38030364_38030379delinsTCCATCCTCCCCTTCC NCBI36
NG_009553.1:g.46354_46369delinsGGAAGGGGAGGATGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1683_953+1698delinsGGAAGGGGAGGATGGA
ENST00000642170.1:n.1826+4777_1826+4792delinsGGAAGGGGAGGATGGA
ENST00000642395.2:c.1905+912_1905+927delinsGGAAGGGGAGGATGGA ENSP00000493468.2:n.1905+912_1905+927delinsGGAAGGGGAGGATGGA
ENST00000642739.1:c.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA ENSP00000493596.1:n.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA...
ENST00000644238.1:c.1386+4777_1386+4792delinsGGAAGGGGAGGATGGA ENSP00000496728.1:n.1386+4777_1386+4792delinsGGAAGGGGAGGATGGA...
ENST00000644337.1:c.1719+912_1719+927delinsGGAAGGGGAGGATGGA ENSP00000494557.1:n.1719+912_1719+927delinsGGAAGGGGAGGATGGA
ENST00000645032.1:c.2817_2832delinsGGAAGGGGAGGATGGA MANE Select ENSP00000495537.1:p.Gly939=
ENST00000645124.1:c.*101+912_*101+927delinsGGAAGGGGAGGATGGA ENSP00000496446.1:n.*101+912_*101+927delinsGGAAGGGGAGGATGGA
ENST00000646020.1:c.*594+912_*594+927delinsGGAAGGGGAGGATGGA ENSP00000494745.1:n.*594+912_*594+927delinsGGAAGGGGAGGATGGA
ENST00000318842.11:c.1905+912_1905+927delinsGGAAGGGGAGGATGGA ENSP00000322219.6:n.1905+912_1905+927delinsGGAAGGGGAGGATGGA
ENST00000339363.7:c.2520+912_2520+927delinsGGAAGGGGAGGATGGA ENSP00000343671.3:n.2520+912_2520+927delinsGGAAGGGGAGGATGGA
ENST00000378505.6:c.2817_2832delinsGGAAGGGGAGGATGGA ENSP00000367766.2:p.Gly939=
ENST00000465127.1:c.172-379954_172-379939delinsTCCATCCTCCCCTTCC ENSP00000417050.1:n.172-379954_172-379939delinsTCCATCCTCCCCTT...
ENST00000474584.5:c.*37+4777_*37+4792delinsGGAAGGGGAGGATGGA ENSP00000418926.1:n.*37+4777_*37+4792delinsGGAAGGGGAGGATGGA
ENST00000482855.5:c.1905+912_1905+927delinsGGAAGGGGAGGATGGA ENSP00000419276.1:n.1905+912_1905+927delinsGGAAGGGGAGGATGGA
ENST00000494707.5:c.139+4777_139+4792delinsGGAAGGGGAGGATGGA
NM_000328.2:c.1905+912_1905+927delinsGGAAGGGGAGGATGGA NP_000319.1:n.1905+912_1905+927delinsGGAAGGGGAGGATGGA
NM_001034853.1:c.2817_2832delinsGGAAGGGGAGGATGGA NP_001030025.1:p.Gly939=
XM_005272633.1:c.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA XP_005272690.1:n.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA
XM_011543940.1:c.1902+912_1902+927delinsGGAAGGGGAGGATGGA XP_011542242.1:n.1902+912_1902+927delinsGGAAGGGGAGGATGGA
XM_005272633.3:c.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA XP_005272690.1:n.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA
XM_011543940.3:c.1902+912_1902+927delinsGGAAGGGGAGGATGGA XP_011542242.1:n.1902+912_1902+927delinsGGAAGGGGAGGATGGA
XM_017029712.2:c.1569+4777_1569+4792delinsGGAAGGGGAGGATGGA XP_016885201.1:n.1569+4777_1569+4792delinsGGAAGGGGAGGATGGA
NM_001367245.1:c.1902+912_1902+927delinsGGAAGGGGAGGATGGA NP_001354174.1:n.1902+912_1902+927delinsGGAAGGGGAGGATGGA
NM_001367246.1:c.1719+912_1719+927delinsGGAAGGGGAGGATGGA NP_001354175.1:n.1719+912_1719+927delinsGGAAGGGGAGGATGGA
NM_001367247.1:c.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA NP_001354176.1:n.1572+4777_1572+4792delinsGGAAGGGGAGGATGGA
NM_001367248.1:c.1602+4777_1602+4792delinsGGAAGGGGAGGATGGA NP_001354177.1:n.1602+4777_1602+4792delinsGGAAGGGGAGGATGGA
NM_001367249.1:c.1569+4777_1569+4792delinsGGAAGGGGAGGATGGA NP_001354178.1:n.1569+4777_1569+4792delinsGGAAGGGGAGGATGGA
NM_001367250.1:c.1569+4777_1569+4792delinsGGAAGGGGAGGATGGA NP_001354179.1:n.1569+4777_1569+4792delinsGGAAGGGGAGGATGGA
NM_001367251.1:c.1386+4777_1386+4792delinsGGAAGGGGAGGATGGA NP_001354180.1:n.1386+4777_1386+4792delinsGGAAGGGGAGGATGGA
NR_159803.1:n.2263+912_2263+927delinsGGAAGGGGAGGATGGA
NR_159804.1:n.1648+4777_1648+4792delinsGGAAGGGGAGGATGGA
NR_159805.1:n.1714+4777_1714+4792delinsGGAAGGGGAGGATGGA
NR_159806.1:n.1866+912_1866+927delinsGGAAGGGGAGGATGGA
NR_159807.1:n.1622+4777_1622+4792delinsGGAAGGGGAGGATGGA
NR_159808.1:n.1826+4777_1826+4792delinsGGAAGGGGAGGATGGA
NM_000328.3:c.1905+912_1905+927delinsGGAAGGGGAGGATGGA NP_000319.1:n.1905+912_1905+927delinsGGAAGGGGAGGATGGA
NM_001034853.2:c.2817_2832delinsGGAAGGGGAGGATGGA MANE Select NP_001030025.1:p.Gly939=