Canonical Allele Identifier: CA2697553047
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 2766986
ClinVar RCV Id: RCV003538167

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286242_38286274dup , CM000685.2:g.38286242_38286274dup GRCh38
NC_000023.10:g.38145495_38145527dup , CM000685.1:g.38145495_38145527dup GRCh37
NC_000023.9:g.38030439_38030471dup NCBI36
NG_009553.1:g.46262_46294dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1591_953+1623dup
ENST00000642170.1:n.1826+4685_1826+4717dup
ENST00000642395.2:c.1905+820_1905+852dup ENSP00000493468.2:n.1905+820_1905+852dup
ENST00000642739.1:c.1572+4685_1572+4717dup ENSP00000493596.1:n.1572+4685_1572+4717dup
ENST00000644238.1:c.1386+4685_1386+4717dup ENSP00000496728.1:n.1386+4685_1386+4717dup
ENST00000644337.1:c.1719+820_1719+852dup ENSP00000494557.1:n.1719+820_1719+852dup
ENST00000645032.1:c.2725_2757dup MANE Select ENSP00000495537.1:p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluG...
ENST00000645124.1:c.*101+820_*101+852dup ENSP00000496446.1:n.*101+820_*101+852dup
ENST00000646020.1:c.*594+820_*594+852dup ENSP00000494745.1:n.*594+820_*594+852dup
ENST00000318842.11:c.1905+820_1905+852dup ENSP00000322219.6:n.1905+820_1905+852dup
ENST00000339363.7:c.2520+820_2520+852dup ENSP00000343671.3:n.2520+820_2520+852dup
ENST00000378505.6:c.2725_2757dup ENSP00000367766.2:p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluG...
ENST00000465127.1:c.172-379879_172-379847dup ENSP00000417050.1:n.172-379879_172-379847dup
ENST00000474584.5:c.*37+4685_*37+4717dup ENSP00000418926.1:n.*37+4685_*37+4717dup
ENST00000482855.5:c.1905+820_1905+852dup ENSP00000419276.1:n.1905+820_1905+852dup
ENST00000494707.5:c.139+4685_139+4717dup
NM_000328.2:c.1905+820_1905+852dup NP_000319.1:n.1905+820_1905+852dup
NM_001034853.1:c.2725_2757dup NP_001030025.1:p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyG...
XM_005272633.1:c.1572+4685_1572+4717dup XP_005272690.1:n.1572+4685_1572+4717dup
XM_011543940.1:c.1902+820_1902+852dup XP_011542242.1:n.1902+820_1902+852dup
XM_005272633.3:c.1572+4685_1572+4717dup XP_005272690.1:n.1572+4685_1572+4717dup
XM_011543940.3:c.1902+820_1902+852dup XP_011542242.1:n.1902+820_1902+852dup
XM_017029712.2:c.1569+4685_1569+4717dup XP_016885201.1:n.1569+4685_1569+4717dup
NM_001367245.1:c.1902+820_1902+852dup NP_001354174.1:n.1902+820_1902+852dup
NM_001367246.1:c.1719+820_1719+852dup NP_001354175.1:n.1719+820_1719+852dup
NM_001367247.1:c.1572+4685_1572+4717dup NP_001354176.1:n.1572+4685_1572+4717dup
NM_001367248.1:c.1602+4685_1602+4717dup NP_001354177.1:n.1602+4685_1602+4717dup
NM_001367249.1:c.1569+4685_1569+4717dup NP_001354178.1:n.1569+4685_1569+4717dup
NM_001367250.1:c.1569+4685_1569+4717dup NP_001354179.1:n.1569+4685_1569+4717dup
NM_001367251.1:c.1386+4685_1386+4717dup NP_001354180.1:n.1386+4685_1386+4717dup
NR_159803.1:n.2263+820_2263+852dup
NR_159804.1:n.1648+4685_1648+4717dup
NR_159805.1:n.1714+4685_1714+4717dup
NR_159806.1:n.1866+820_1866+852dup
NR_159807.1:n.1622+4685_1622+4717dup
NR_159808.1:n.1826+4685_1826+4717dup
NM_000328.3:c.1905+820_1905+852dup NP_000319.1:n.1905+820_1905+852dup
NM_001034853.2:c.2725_2757dup MANE Select NP_001030025.1:p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyG...