Canonical Allele Identifier: CA2506354982
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285685_38285686insAAAAAATGGGCCATCAGGTTCCAAAAAGTTCTGGAA , CM000685.2:g.38285685_38285686insAAAAAATGGGCCATCAGGTTCCAAAAAGTTCTGGAA GRCh38
NC_000023.10:g.38144938_38144939insAAAAAATGGGCCATCAGGTTCCAAAAAGTTCTGGAA , CM000685.1:g.38144938_38144939insAAAAAATGGGCCATCAGGTTCCAAAAAGTTCTGGAA GRCh37
NC_000023.9:g.38029882_38029883insAAAAAATGGGCCATCAGGTTCCAAAAAGTTCTGGAA NCBI36
NG_009553.1:g.46850_46851insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+2179_953+2180insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
ENST00000642170.1:n.1826+5273_1826+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
ENST00000642395.2:c.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000493468.2:n.1905+1408_1905+1409insTTCCAGAACTTTTTGGAAC...
ENST00000642739.1:c.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000493596.1:n.1572+5273_1572+5274insTTCCAGAACTTTTTGGAAC...
ENST00000644238.1:c.1386+5273_1386+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000496728.1:n.1386+5273_1386+5274insTTCCAGAACTTTTTGGAAC...
ENST00000644337.1:c.1719+1408_1719+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000494557.1:n.1719+1408_1719+1409insTTCCAGAACTTTTTGGAAC...
ENST00000645032.1:c.3313_3314insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT MANE Select ENSP00000495537.1:p.Lys1105IlefsTer8
ENST00000645124.1:c.*101+1408_*101+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000496446.1:n.*101+1408_*101+1409insTTCCAGAACTTTTTGGAAC...
ENST00000646020.1:c.*594+1408_*594+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000494745.1:n.*594+1408_*594+1409insTTCCAGAACTTTTTGGAAC...
ENST00000318842.11:c.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000322219.6:n.1905+1408_1905+1409insTTCCAGAACTTTTTGGAAC...
ENST00000339363.7:c.2520+1408_2520+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000343671.3:n.2520+1408_2520+1409insTTCCAGAACTTTTTGGAAC...
ENST00000378505.6:c.3313_3314insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000367766.2:p.Lys1105IlefsTer8
ENST00000465127.1:c.172-380436_172-380435insAAAAAATGGGCCATCAGGTTCCAAAAAGTTCTGGAA ENSP00000417050.1:n.172-380436_172-380435insAAAAAATGGGCCATCAG...
ENST00000474584.5:c.*37+5273_*37+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000418926.1:n.*37+5273_*37+5274insTTCCAGAACTTTTTGGAACCT...
ENST00000482855.5:c.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT ENSP00000419276.1:n.1905+1408_1905+1409insTTCCAGAACTTTTTGGAAC...
ENST00000494707.5:c.139+5273_139+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NM_000328.2:c.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_000319.1:n.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATG...
NM_001034853.1:c.3313_3314insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001030025.1:p.Lys1105IlefsTer8
XM_005272633.1:c.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT XP_005272690.1:n.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTG...
XM_011543940.1:c.1902+1408_1902+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT XP_011542242.1:n.1902+1408_1902+1409insTTCCAGAACTTTTTGGAACCTG...
XM_005272633.3:c.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT XP_005272690.1:n.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTG...
XM_011543940.3:c.1902+1408_1902+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT XP_011542242.1:n.1902+1408_1902+1409insTTCCAGAACTTTTTGGAACCTG...
XM_017029712.2:c.1569+5273_1569+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT XP_016885201.1:n.1569+5273_1569+5274insTTCCAGAACTTTTTGGAACCTG...
NM_001367245.1:c.1902+1408_1902+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354174.1:n.1902+1408_1902+1409insTTCCAGAACTTTTTGGAACCTG...
NM_001367246.1:c.1719+1408_1719+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354175.1:n.1719+1408_1719+1409insTTCCAGAACTTTTTGGAACCTG...
NM_001367247.1:c.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354176.1:n.1572+5273_1572+5274insTTCCAGAACTTTTTGGAACCTG...
NM_001367248.1:c.1602+5273_1602+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354177.1:n.1602+5273_1602+5274insTTCCAGAACTTTTTGGAACCTG...
NM_001367249.1:c.1569+5273_1569+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354178.1:n.1569+5273_1569+5274insTTCCAGAACTTTTTGGAACCTG...
NM_001367250.1:c.1569+5273_1569+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354179.1:n.1569+5273_1569+5274insTTCCAGAACTTTTTGGAACCTG...
NM_001367251.1:c.1386+5273_1386+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_001354180.1:n.1386+5273_1386+5274insTTCCAGAACTTTTTGGAACCTG...
NR_159803.1:n.2263+1408_2263+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NR_159804.1:n.1648+5273_1648+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NR_159805.1:n.1714+5273_1714+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NR_159806.1:n.1866+1408_1866+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NR_159807.1:n.1622+5273_1622+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NR_159808.1:n.1826+5273_1826+5274insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT
NM_000328.3:c.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT NP_000319.1:n.1905+1408_1905+1409insTTCCAGAACTTTTTGGAACCTGATG...
NM_001034853.2:c.3313_3314insTTCCAGAACTTTTTGGAACCTGATGGCCCATTTTTT MANE Select NP_001030025.1:p.Lys1105IlefsTer8