Canonical Allele Identifier: CA2740092098
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 2965098
ClinVar RCV Id: RCV003823264

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286059_38286085dup , CM000685.2:g.38286059_38286085dup GRCh38
NC_000023.10:g.38145312_38145338dup , CM000685.1:g.38145312_38145338dup GRCh37
NC_000023.9:g.38030256_38030282dup NCBI36
NG_009553.1:g.46458_46484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1787_953+1813dup
ENST00000642170.1:n.1826+4881_1826+4907dup
ENST00000642395.2:c.1905+1016_1905+1042dup ENSP00000493468.2:n.1905+1016_1905+1042dup
ENST00000642739.1:c.1572+4881_1572+4907dup ENSP00000493596.1:n.1572+4881_1572+4907dup
ENST00000644238.1:c.1386+4881_1386+4907dup ENSP00000496728.1:n.1386+4881_1386+4907dup
ENST00000644337.1:c.1719+1016_1719+1042dup ENSP00000494557.1:n.1719+1016_1719+1042dup
ENST00000645032.1:c.2921_2947dup MANE Select ENSP00000495537.1:p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyG...
ENST00000645124.1:c.*101+1016_*101+1042dup ENSP00000496446.1:n.*101+1016_*101+1042dup
ENST00000646020.1:c.*594+1016_*594+1042dup ENSP00000494745.1:n.*594+1016_*594+1042dup
ENST00000318842.11:c.1905+1016_1905+1042dup ENSP00000322219.6:n.1905+1016_1905+1042dup
ENST00000339363.7:c.2520+1016_2520+1042dup ENSP00000343671.3:n.2520+1016_2520+1042dup
ENST00000378505.6:c.2921_2947dup ENSP00000367766.2:p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyG...
ENST00000465127.1:c.172-380062_172-380036dup ENSP00000417050.1:n.172-380062_172-380036dup
ENST00000474584.5:c.*37+4881_*37+4907dup ENSP00000418926.1:n.*37+4881_*37+4907dup
ENST00000482855.5:c.1905+1016_1905+1042dup ENSP00000419276.1:n.1905+1016_1905+1042dup
ENST00000494707.5:c.139+4881_139+4907dup
NM_000328.2:c.1905+1016_1905+1042dup NP_000319.1:n.1905+1016_1905+1042dup
NM_001034853.1:c.2921_2947dup NP_001030025.1:p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu
XM_005272633.1:c.1572+4881_1572+4907dup XP_005272690.1:n.1572+4881_1572+4907dup
XM_011543940.1:c.1902+1016_1902+1042dup XP_011542242.1:n.1902+1016_1902+1042dup
XM_005272633.3:c.1572+4881_1572+4907dup XP_005272690.1:n.1572+4881_1572+4907dup
XM_011543940.3:c.1902+1016_1902+1042dup XP_011542242.1:n.1902+1016_1902+1042dup
XM_017029712.2:c.1569+4881_1569+4907dup XP_016885201.1:n.1569+4881_1569+4907dup
NM_001367245.1:c.1902+1016_1902+1042dup NP_001354174.1:n.1902+1016_1902+1042dup
NM_001367246.1:c.1719+1016_1719+1042dup NP_001354175.1:n.1719+1016_1719+1042dup
NM_001367247.1:c.1572+4881_1572+4907dup NP_001354176.1:n.1572+4881_1572+4907dup
NM_001367248.1:c.1602+4881_1602+4907dup NP_001354177.1:n.1602+4881_1602+4907dup
NM_001367249.1:c.1569+4881_1569+4907dup NP_001354178.1:n.1569+4881_1569+4907dup
NM_001367250.1:c.1569+4881_1569+4907dup NP_001354179.1:n.1569+4881_1569+4907dup
NM_001367251.1:c.1386+4881_1386+4907dup NP_001354180.1:n.1386+4881_1386+4907dup
NR_159803.1:n.2263+1016_2263+1042dup
NR_159804.1:n.1648+4881_1648+4907dup
NR_159805.1:n.1714+4881_1714+4907dup
NR_159806.1:n.1866+1016_1866+1042dup
NR_159807.1:n.1622+4881_1622+4907dup
NR_159808.1:n.1826+4881_1826+4907dup
NM_000328.3:c.1905+1016_1905+1042dup NP_000319.1:n.1905+1016_1905+1042dup
NM_001034853.2:c.2921_2947dup MANE Select NP_001030025.1:p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu