Canonical Allele Identifier: CA2693438923
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286056_38286059del , CM000685.2:g.38286056_38286059del GRCh38
NC_000023.10:g.38145309_38145312del , CM000685.1:g.38145309_38145312del GRCh37
NC_000023.9:g.38030253_38030256del NCBI36
NG_009553.1:g.46478_46481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1807_953+1810del
ENST00000642170.1:n.1826+4901_1826+4904del
ENST00000642395.2:c.1905+1036_1905+1039del ENSP00000493468.2:n.1905+1036_1905+1039del
ENST00000642739.1:c.1572+4901_1572+4904del ENSP00000493596.1:n.1572+4901_1572+4904del
ENST00000644238.1:c.1386+4901_1386+4904del ENSP00000496728.1:n.1386+4901_1386+4904del
ENST00000644337.1:c.1719+1036_1719+1039del ENSP00000494557.1:n.1719+1036_1719+1039del
ENST00000645032.1:c.2941_2944del MANE Select ENSP00000495537.1:p.Gly981LysfsTer?
ENST00000645124.1:c.*101+1036_*101+1039del ENSP00000496446.1:n.*101+1036_*101+1039del
ENST00000646020.1:c.*594+1036_*594+1039del ENSP00000494745.1:n.*594+1036_*594+1039del
ENST00000318842.11:c.1905+1036_1905+1039del ENSP00000322219.6:n.1905+1036_1905+1039del
ENST00000339363.7:c.2520+1036_2520+1039del ENSP00000343671.3:n.2520+1036_2520+1039del
ENST00000378505.6:c.2941_2944del ENSP00000367766.2:p.Gly981LysfsTer?
ENST00000465127.1:c.172-380065_172-380062del ENSP00000417050.1:n.172-380065_172-380062del
ENST00000474584.5:c.*37+4901_*37+4904del ENSP00000418926.1:n.*37+4901_*37+4904del
ENST00000482855.5:c.1905+1036_1905+1039del ENSP00000419276.1:n.1905+1036_1905+1039del
ENST00000494707.5:c.139+4901_139+4904del
NM_000328.2:c.1905+1036_1905+1039del NP_000319.1:n.1905+1036_1905+1039del
NM_001034853.1:c.2941_2944del NP_001030025.1:p.Gly981LysfsTer?
XM_005272633.1:c.1572+4901_1572+4904del XP_005272690.1:n.1572+4901_1572+4904del
XM_011543940.1:c.1902+1036_1902+1039del XP_011542242.1:n.1902+1036_1902+1039del
XM_005272633.3:c.1572+4901_1572+4904del XP_005272690.1:n.1572+4901_1572+4904del
XM_011543940.3:c.1902+1036_1902+1039del XP_011542242.1:n.1902+1036_1902+1039del
XM_017029712.2:c.1569+4901_1569+4904del XP_016885201.1:n.1569+4901_1569+4904del
NM_001367245.1:c.1902+1036_1902+1039del NP_001354174.1:n.1902+1036_1902+1039del
NM_001367246.1:c.1719+1036_1719+1039del NP_001354175.1:n.1719+1036_1719+1039del
NM_001367247.1:c.1572+4901_1572+4904del NP_001354176.1:n.1572+4901_1572+4904del
NM_001367248.1:c.1602+4901_1602+4904del NP_001354177.1:n.1602+4901_1602+4904del
NM_001367249.1:c.1569+4901_1569+4904del NP_001354178.1:n.1569+4901_1569+4904del
NM_001367250.1:c.1569+4901_1569+4904del NP_001354179.1:n.1569+4901_1569+4904del
NM_001367251.1:c.1386+4901_1386+4904del NP_001354180.1:n.1386+4901_1386+4904del
NR_159803.1:n.2263+1036_2263+1039del
NR_159804.1:n.1648+4901_1648+4904del
NR_159805.1:n.1714+4901_1714+4904del
NR_159806.1:n.1866+1036_1866+1039del
NR_159807.1:n.1622+4901_1622+4904del
NR_159808.1:n.1826+4901_1826+4904del
NM_000328.3:c.1905+1036_1905+1039del NP_000319.1:n.1905+1036_1905+1039del
NM_001034853.2:c.2941_2944del MANE Select NP_001030025.1:p.Gly981LysfsTer?