Canonical Allele Identifier: CA2693438914
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286045_38286051del , CM000685.2:g.38286045_38286051del GRCh38
NC_000023.10:g.38145298_38145304del , CM000685.1:g.38145298_38145304del GRCh37
NC_000023.9:g.38030242_38030248del NCBI36
NG_009553.1:g.46490_46496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1819_953+1825del
ENST00000642170.1:n.1826+4913_1826+4919del
ENST00000642395.2:c.1905+1048_1905+1054del ENSP00000493468.2:n.1905+1048_1905+1054del
ENST00000642739.1:c.1572+4913_1572+4919del ENSP00000493596.1:n.1572+4913_1572+4919del
ENST00000644238.1:c.1386+4913_1386+4919del ENSP00000496728.1:n.1386+4913_1386+4919del
ENST00000644337.1:c.1719+1048_1719+1054del ENSP00000494557.1:n.1719+1048_1719+1054del
ENST00000645032.1:c.2953_2959del MANE Select ENSP00000495537.1:p.Glu985LysfsTer?
ENST00000645124.1:c.*101+1048_*101+1054del ENSP00000496446.1:n.*101+1048_*101+1054del
ENST00000646020.1:c.*594+1048_*594+1054del ENSP00000494745.1:n.*594+1048_*594+1054del
ENST00000318842.11:c.1905+1048_1905+1054del ENSP00000322219.6:n.1905+1048_1905+1054del
ENST00000339363.7:c.2520+1048_2520+1054del ENSP00000343671.3:n.2520+1048_2520+1054del
ENST00000378505.6:c.2953_2959del ENSP00000367766.2:p.Glu985LysfsTer?
ENST00000465127.1:c.172-380076_172-380070del ENSP00000417050.1:n.172-380076_172-380070del
ENST00000474584.5:c.*37+4913_*37+4919del ENSP00000418926.1:n.*37+4913_*37+4919del
ENST00000482855.5:c.1905+1048_1905+1054del ENSP00000419276.1:n.1905+1048_1905+1054del
ENST00000494707.5:c.139+4913_139+4919del
NM_000328.2:c.1905+1048_1905+1054del NP_000319.1:n.1905+1048_1905+1054del
NM_001034853.1:c.2953_2959del NP_001030025.1:p.Glu985LysfsTer?
XM_005272633.1:c.1572+4913_1572+4919del XP_005272690.1:n.1572+4913_1572+4919del
XM_011543940.1:c.1902+1048_1902+1054del XP_011542242.1:n.1902+1048_1902+1054del
XM_005272633.3:c.1572+4913_1572+4919del XP_005272690.1:n.1572+4913_1572+4919del
XM_011543940.3:c.1902+1048_1902+1054del XP_011542242.1:n.1902+1048_1902+1054del
XM_017029712.2:c.1569+4913_1569+4919del XP_016885201.1:n.1569+4913_1569+4919del
NM_001367245.1:c.1902+1048_1902+1054del NP_001354174.1:n.1902+1048_1902+1054del
NM_001367246.1:c.1719+1048_1719+1054del NP_001354175.1:n.1719+1048_1719+1054del
NM_001367247.1:c.1572+4913_1572+4919del NP_001354176.1:n.1572+4913_1572+4919del
NM_001367248.1:c.1602+4913_1602+4919del NP_001354177.1:n.1602+4913_1602+4919del
NM_001367249.1:c.1569+4913_1569+4919del NP_001354178.1:n.1569+4913_1569+4919del
NM_001367250.1:c.1569+4913_1569+4919del NP_001354179.1:n.1569+4913_1569+4919del
NM_001367251.1:c.1386+4913_1386+4919del NP_001354180.1:n.1386+4913_1386+4919del
NR_159803.1:n.2263+1048_2263+1054del
NR_159804.1:n.1648+4913_1648+4919del
NR_159805.1:n.1714+4913_1714+4919del
NR_159806.1:n.1866+1048_1866+1054del
NR_159807.1:n.1622+4913_1622+4919del
NR_159808.1:n.1826+4913_1826+4919del
NM_000328.3:c.1905+1048_1905+1054del NP_000319.1:n.1905+1048_1905+1054del
NM_001034853.2:c.2953_2959del MANE Select NP_001030025.1:p.Glu985LysfsTer?