Canonical Allele Identifier: CA2424844385
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286083_38286086delinsCCCT , CM000685.2:g.38286083_38286086delinsCCCT GRCh38
NC_000023.10:g.38145336_38145339delinsCCCT , CM000685.1:g.38145336_38145339delinsCCCT GRCh37
NC_000023.9:g.38030280_38030283delinsCCCT NCBI36
NG_009553.1:g.46450_46453delinsAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1779_953+1782delinsAGGG
ENST00000642170.1:n.1826+4873_1826+4876delinsAGGG
ENST00000642395.2:c.1905+1008_1905+1011delinsAGGG ENSP00000493468.2:n.1905+1008_1905+1011delinsAGGG
ENST00000642739.1:c.1572+4873_1572+4876delinsAGGG ENSP00000493596.1:n.1572+4873_1572+4876delinsAGGG
ENST00000644238.1:c.1386+4873_1386+4876delinsAGGG ENSP00000496728.1:n.1386+4873_1386+4876delinsAGGG
ENST00000644337.1:c.1719+1008_1719+1011delinsAGGG ENSP00000494557.1:n.1719+1008_1719+1011delinsAGGG
ENST00000645032.1:c.2913_2916delinsAGGG MANE Select ENSP00000495537.1:p.Glu971=
ENST00000645124.1:c.*101+1008_*101+1011delinsAGGG ENSP00000496446.1:n.*101+1008_*101+1011delinsAGGG
ENST00000646020.1:c.*594+1008_*594+1011delinsAGGG ENSP00000494745.1:n.*594+1008_*594+1011delinsAGGG
ENST00000318842.11:c.1905+1008_1905+1011delinsAGGG ENSP00000322219.6:n.1905+1008_1905+1011delinsAGGG
ENST00000339363.7:c.2520+1008_2520+1011delinsAGGG ENSP00000343671.3:n.2520+1008_2520+1011delinsAGGG
ENST00000378505.6:c.2913_2916delinsAGGG ENSP00000367766.2:p.Glu971=
ENST00000465127.1:c.172-380038_172-380035delinsCCCT ENSP00000417050.1:n.172-380038_172-380035delinsCCCT
ENST00000474584.5:c.*37+4873_*37+4876delinsAGGG ENSP00000418926.1:n.*37+4873_*37+4876delinsAGGG
ENST00000482855.5:c.1905+1008_1905+1011delinsAGGG ENSP00000419276.1:n.1905+1008_1905+1011delinsAGGG
ENST00000494707.5:c.139+4873_139+4876delinsAGGG
NM_000328.2:c.1905+1008_1905+1011delinsAGGG NP_000319.1:n.1905+1008_1905+1011delinsAGGG
NM_001034853.1:c.2913_2916delinsAGGG NP_001030025.1:p.Glu971=
XM_005272633.1:c.1572+4873_1572+4876delinsAGGG XP_005272690.1:n.1572+4873_1572+4876delinsAGGG
XM_011543940.1:c.1902+1008_1902+1011delinsAGGG XP_011542242.1:n.1902+1008_1902+1011delinsAGGG
XM_005272633.3:c.1572+4873_1572+4876delinsAGGG XP_005272690.1:n.1572+4873_1572+4876delinsAGGG
XM_011543940.3:c.1902+1008_1902+1011delinsAGGG XP_011542242.1:n.1902+1008_1902+1011delinsAGGG
XM_017029712.2:c.1569+4873_1569+4876delinsAGGG XP_016885201.1:n.1569+4873_1569+4876delinsAGGG
NM_001367245.1:c.1902+1008_1902+1011delinsAGGG NP_001354174.1:n.1902+1008_1902+1011delinsAGGG
NM_001367246.1:c.1719+1008_1719+1011delinsAGGG NP_001354175.1:n.1719+1008_1719+1011delinsAGGG
NM_001367247.1:c.1572+4873_1572+4876delinsAGGG NP_001354176.1:n.1572+4873_1572+4876delinsAGGG
NM_001367248.1:c.1602+4873_1602+4876delinsAGGG NP_001354177.1:n.1602+4873_1602+4876delinsAGGG
NM_001367249.1:c.1569+4873_1569+4876delinsAGGG NP_001354178.1:n.1569+4873_1569+4876delinsAGGG
NM_001367250.1:c.1569+4873_1569+4876delinsAGGG NP_001354179.1:n.1569+4873_1569+4876delinsAGGG
NM_001367251.1:c.1386+4873_1386+4876delinsAGGG NP_001354180.1:n.1386+4873_1386+4876delinsAGGG
NR_159803.1:n.2263+1008_2263+1011delinsAGGG
NR_159804.1:n.1648+4873_1648+4876delinsAGGG
NR_159805.1:n.1714+4873_1714+4876delinsAGGG
NR_159806.1:n.1866+1008_1866+1011delinsAGGG
NR_159807.1:n.1622+4873_1622+4876delinsAGGG
NR_159808.1:n.1826+4873_1826+4876delinsAGGG
NM_000328.3:c.1905+1008_1905+1011delinsAGGG NP_000319.1:n.1905+1008_1905+1011delinsAGGG
NM_001034853.2:c.2913_2916delinsAGGG MANE Select NP_001030025.1:p.Glu971=