Canonical Allele Identifier: CA2693439102
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286453_38286454insATAGGTATTGAT , CM000685.2:g.38286453_38286454insATAGGTATTGAT GRCh38
NC_000023.10:g.38145706_38145707insATAGGTATTGAT , CM000685.1:g.38145706_38145707insATAGGTATTGAT GRCh37
NC_000023.9:g.38030650_38030651insATAGGTATTGAT NCBI36
NG_009553.1:g.46082_46083insATCAATACCTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1411_953+1412insATCAATACCTAT
ENST00000642170.1:n.1826+4505_1826+4506insATCAATACCTAT
ENST00000642395.2:c.1905+640_1905+641insATCAATACCTAT ENSP00000493468.2:n.1905+640_1905+641insATCAATACCTAT
ENST00000642739.1:c.1572+4505_1572+4506insATCAATACCTAT ENSP00000493596.1:n.1572+4505_1572+4506insATCAATACCTAT
ENST00000644238.1:c.1386+4505_1386+4506insATCAATACCTAT ENSP00000496728.1:n.1386+4505_1386+4506insATCAATACCTAT
ENST00000644337.1:c.1719+640_1719+641insATCAATACCTAT ENSP00000494557.1:n.1719+640_1719+641insATCAATACCTAT
ENST00000645032.1:c.2545_2546insATCAATACCTAT MANE Select ENSP00000495537.1:p.Gly849delinsAspGlnTyrLeuTrp
ENST00000645124.1:c.*101+640_*101+641insATCAATACCTAT ENSP00000496446.1:n.*101+640_*101+641insATCAATACCTAT
ENST00000646020.1:c.*594+640_*594+641insATCAATACCTAT ENSP00000494745.1:n.*594+640_*594+641insATCAATACCTAT
ENST00000318842.11:c.1905+640_1905+641insATCAATACCTAT ENSP00000322219.6:n.1905+640_1905+641insATCAATACCTAT
ENST00000339363.7:c.2520+640_2520+641insATCAATACCTAT ENSP00000343671.3:n.2520+640_2520+641insATCAATACCTAT
ENST00000378505.6:c.2545_2546insATCAATACCTAT ENSP00000367766.2:p.Gly849delinsAspGlnTyrLeuTrp
ENST00000465127.1:c.172-379668_172-379667insATAGGTATTGAT ENSP00000417050.1:n.172-379668_172-379667insATAGGTATTGAT
ENST00000474584.5:c.*37+4505_*37+4506insATCAATACCTAT ENSP00000418926.1:n.*37+4505_*37+4506insATCAATACCTAT
ENST00000482855.5:c.1905+640_1905+641insATCAATACCTAT ENSP00000419276.1:n.1905+640_1905+641insATCAATACCTAT
ENST00000494707.5:c.139+4505_139+4506insATCAATACCTAT
NM_000328.2:c.1905+640_1905+641insATCAATACCTAT NP_000319.1:n.1905+640_1905+641insATCAATACCTAT
NM_001034853.1:c.2545_2546insATCAATACCTAT NP_001030025.1:p.Gly849delinsAspGlnTyrLeuTrp
XM_005272633.1:c.1572+4505_1572+4506insATCAATACCTAT XP_005272690.1:n.1572+4505_1572+4506insATCAATACCTAT
XM_011543940.1:c.1902+640_1902+641insATCAATACCTAT XP_011542242.1:n.1902+640_1902+641insATCAATACCTAT
XM_005272633.3:c.1572+4505_1572+4506insATCAATACCTAT XP_005272690.1:n.1572+4505_1572+4506insATCAATACCTAT
XM_011543940.3:c.1902+640_1902+641insATCAATACCTAT XP_011542242.1:n.1902+640_1902+641insATCAATACCTAT
XM_017029712.2:c.1569+4505_1569+4506insATCAATACCTAT XP_016885201.1:n.1569+4505_1569+4506insATCAATACCTAT
NM_001367245.1:c.1902+640_1902+641insATCAATACCTAT NP_001354174.1:n.1902+640_1902+641insATCAATACCTAT
NM_001367246.1:c.1719+640_1719+641insATCAATACCTAT NP_001354175.1:n.1719+640_1719+641insATCAATACCTAT
NM_001367247.1:c.1572+4505_1572+4506insATCAATACCTAT NP_001354176.1:n.1572+4505_1572+4506insATCAATACCTAT
NM_001367248.1:c.1602+4505_1602+4506insATCAATACCTAT NP_001354177.1:n.1602+4505_1602+4506insATCAATACCTAT
NM_001367249.1:c.1569+4505_1569+4506insATCAATACCTAT NP_001354178.1:n.1569+4505_1569+4506insATCAATACCTAT
NM_001367250.1:c.1569+4505_1569+4506insATCAATACCTAT NP_001354179.1:n.1569+4505_1569+4506insATCAATACCTAT
NM_001367251.1:c.1386+4505_1386+4506insATCAATACCTAT NP_001354180.1:n.1386+4505_1386+4506insATCAATACCTAT
NR_159803.1:n.2263+640_2263+641insATCAATACCTAT
NR_159804.1:n.1648+4505_1648+4506insATCAATACCTAT
NR_159805.1:n.1714+4505_1714+4506insATCAATACCTAT
NR_159806.1:n.1866+640_1866+641insATCAATACCTAT
NR_159807.1:n.1622+4505_1622+4506insATCAATACCTAT
NR_159808.1:n.1826+4505_1826+4506insATCAATACCTAT
NM_000328.3:c.1905+640_1905+641insATCAATACCTAT NP_000319.1:n.1905+640_1905+641insATCAATACCTAT
NM_001034853.2:c.2545_2546insATCAATACCTAT MANE Select NP_001030025.1:p.Gly849delinsAspGlnTyrLeuTrp