Canonical Allele Identifier: CA2820486519
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285966_38286028del , CM000685.2:g.38285966_38286028del GRCh38
NC_000023.10:g.38145219_38145281del , CM000685.1:g.38145219_38145281del GRCh37
NC_000023.9:g.38030163_38030225del NCBI36
NG_009553.1:g.46512_46574del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1841_953+1903del
ENST00000642170.1:n.1826+4935_1826+4997del
ENST00000642395.2:c.1905+1070_1905+1132del ENSP00000493468.2:n.1905+1070_1905+1132del
ENST00000642739.1:c.1572+4935_1572+4997del ENSP00000493596.1:n.1572+4935_1572+4997del
ENST00000644238.1:c.1386+4935_1386+4997del ENSP00000496728.1:n.1386+4935_1386+4997del
ENST00000644337.1:c.1719+1070_1719+1132del ENSP00000494557.1:n.1719+1070_1719+1132del
ENST00000645032.1:c.2975_3037del MANE Select ENSP00000495537.1:p.Glu992_Glu1012del
ENST00000645124.1:c.*101+1070_*101+1132del ENSP00000496446.1:n.*101+1070_*101+1132del
ENST00000646020.1:c.*594+1070_*594+1132del ENSP00000494745.1:n.*594+1070_*594+1132del
ENST00000318842.11:c.1905+1070_1905+1132del ENSP00000322219.6:n.1905+1070_1905+1132del
ENST00000339363.7:c.2520+1070_2520+1132del ENSP00000343671.3:n.2520+1070_2520+1132del
ENST00000378505.6:c.2975_3037del ENSP00000367766.2:p.Glu992_Glu1012del
ENST00000465127.1:c.172-380155_172-380093del ENSP00000417050.1:n.172-380155_172-380093del
ENST00000474584.5:c.*37+4935_*37+4997del ENSP00000418926.1:n.*37+4935_*37+4997del
ENST00000482855.5:c.1905+1070_1905+1132del ENSP00000419276.1:n.1905+1070_1905+1132del
ENST00000494707.5:c.139+4935_139+4997del
NM_000328.2:c.1905+1070_1905+1132del NP_000319.1:n.1905+1070_1905+1132del
NM_001034853.1:c.2975_3037del NP_001030025.1:p.Glu992_Glu1012del
XM_005272633.1:c.1572+4935_1572+4997del XP_005272690.1:n.1572+4935_1572+4997del
XM_011543940.1:c.1902+1070_1902+1132del XP_011542242.1:n.1902+1070_1902+1132del
XM_005272633.3:c.1572+4935_1572+4997del XP_005272690.1:n.1572+4935_1572+4997del
XM_011543940.3:c.1902+1070_1902+1132del XP_011542242.1:n.1902+1070_1902+1132del
XM_017029712.2:c.1569+4935_1569+4997del XP_016885201.1:n.1569+4935_1569+4997del
NM_001367245.1:c.1902+1070_1902+1132del NP_001354174.1:n.1902+1070_1902+1132del
NM_001367246.1:c.1719+1070_1719+1132del NP_001354175.1:n.1719+1070_1719+1132del
NM_001367247.1:c.1572+4935_1572+4997del NP_001354176.1:n.1572+4935_1572+4997del
NM_001367248.1:c.1602+4935_1602+4997del NP_001354177.1:n.1602+4935_1602+4997del
NM_001367249.1:c.1569+4935_1569+4997del NP_001354178.1:n.1569+4935_1569+4997del
NM_001367250.1:c.1569+4935_1569+4997del NP_001354179.1:n.1569+4935_1569+4997del
NM_001367251.1:c.1386+4935_1386+4997del NP_001354180.1:n.1386+4935_1386+4997del
NR_159803.1:n.2263+1070_2263+1132del
NR_159804.1:n.1648+4935_1648+4997del
NR_159805.1:n.1714+4935_1714+4997del
NR_159806.1:n.1866+1070_1866+1132del
NR_159807.1:n.1622+4935_1622+4997del
NR_159808.1:n.1826+4935_1826+4997del
NM_000328.3:c.1905+1070_1905+1132del NP_000319.1:n.1905+1070_1905+1132del
NM_001034853.2:c.2975_3037del MANE Select NP_001030025.1:p.Glu992_Glu1012del