Canonical Allele Identifier: CA2580100841
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 1994361
ClinVar RCV Id: RCV002806795

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286146_38286149dup , CM000685.2:g.38286146_38286149dup GRCh38
NC_000023.10:g.38145399_38145402dup , CM000685.1:g.38145399_38145402dup GRCh37
NC_000023.9:g.38030343_38030346dup NCBI36
NG_009553.1:g.46388_46391dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1717_953+1720dup
ENST00000642170.1:n.1826+4811_1826+4814dup
ENST00000642395.2:c.1905+946_1905+949dup ENSP00000493468.2:n.1905+946_1905+949dup
ENST00000642739.1:c.1572+4811_1572+4814dup ENSP00000493596.1:n.1572+4811_1572+4814dup
ENST00000644238.1:c.1386+4811_1386+4814dup ENSP00000496728.1:n.1386+4811_1386+4814dup
ENST00000644337.1:c.1719+946_1719+949dup ENSP00000494557.1:n.1719+946_1719+949dup
ENST00000645032.1:c.2851_2854dup MANE Select ENSP00000495537.1:p.Glu952GlyfsTer?
ENST00000645124.1:c.*101+946_*101+949dup ENSP00000496446.1:n.*101+946_*101+949dup
ENST00000646020.1:c.*594+946_*594+949dup ENSP00000494745.1:n.*594+946_*594+949dup
ENST00000318842.11:c.1905+946_1905+949dup ENSP00000322219.6:n.1905+946_1905+949dup
ENST00000339363.7:c.2520+946_2520+949dup ENSP00000343671.3:n.2520+946_2520+949dup
ENST00000378505.6:c.2851_2854dup ENSP00000367766.2:p.Glu952GlyfsTer?
ENST00000465127.1:c.172-379975_172-379972dup ENSP00000417050.1:n.172-379975_172-379972dup
ENST00000474584.5:c.*37+4811_*37+4814dup ENSP00000418926.1:n.*37+4811_*37+4814dup
ENST00000482855.5:c.1905+946_1905+949dup ENSP00000419276.1:n.1905+946_1905+949dup
ENST00000494707.5:c.139+4811_139+4814dup
NM_000328.2:c.1905+946_1905+949dup NP_000319.1:n.1905+946_1905+949dup
NM_001034853.1:c.2851_2854dup NP_001030025.1:p.Glu952GlyfsTer?
XM_005272633.1:c.1572+4811_1572+4814dup XP_005272690.1:n.1572+4811_1572+4814dup
XM_011543940.1:c.1902+946_1902+949dup XP_011542242.1:n.1902+946_1902+949dup
XM_005272633.3:c.1572+4811_1572+4814dup XP_005272690.1:n.1572+4811_1572+4814dup
XM_011543940.3:c.1902+946_1902+949dup XP_011542242.1:n.1902+946_1902+949dup
XM_017029712.2:c.1569+4811_1569+4814dup XP_016885201.1:n.1569+4811_1569+4814dup
NM_001367245.1:c.1902+946_1902+949dup NP_001354174.1:n.1902+946_1902+949dup
NM_001367246.1:c.1719+946_1719+949dup NP_001354175.1:n.1719+946_1719+949dup
NM_001367247.1:c.1572+4811_1572+4814dup NP_001354176.1:n.1572+4811_1572+4814dup
NM_001367248.1:c.1602+4811_1602+4814dup NP_001354177.1:n.1602+4811_1602+4814dup
NM_001367249.1:c.1569+4811_1569+4814dup NP_001354178.1:n.1569+4811_1569+4814dup
NM_001367250.1:c.1569+4811_1569+4814dup NP_001354179.1:n.1569+4811_1569+4814dup
NM_001367251.1:c.1386+4811_1386+4814dup NP_001354180.1:n.1386+4811_1386+4814dup
NR_159803.1:n.2263+946_2263+949dup
NR_159804.1:n.1648+4811_1648+4814dup
NR_159805.1:n.1714+4811_1714+4814dup
NR_159806.1:n.1866+946_1866+949dup
NR_159807.1:n.1622+4811_1622+4814dup
NR_159808.1:n.1826+4811_1826+4814dup
NM_000328.3:c.1905+946_1905+949dup NP_000319.1:n.1905+946_1905+949dup
NM_001034853.2:c.2851_2854dup MANE Select NP_001030025.1:p.Glu952GlyfsTer?