Canonical Allele Identifier: CA2424844272
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285972_38285975delinsCCCT , CM000685.2:g.38285972_38285975delinsCCCT GRCh38
NC_000023.10:g.38145225_38145228delinsCCCT , CM000685.1:g.38145225_38145228delinsCCCT GRCh37
NC_000023.9:g.38030169_38030172delinsCCCT NCBI36
NG_009553.1:g.46561_46564delinsAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1890_953+1893delinsAGGG
ENST00000642170.1:n.1826+4984_1826+4987delinsAGGG
ENST00000642395.2:c.1905+1119_1905+1122delinsAGGG ENSP00000493468.2:n.1905+1119_1905+1122delinsAGGG
ENST00000642739.1:c.1572+4984_1572+4987delinsAGGG ENSP00000493596.1:n.1572+4984_1572+4987delinsAGGG
ENST00000644238.1:c.1386+4984_1386+4987delinsAGGG ENSP00000496728.1:n.1386+4984_1386+4987delinsAGGG
ENST00000644337.1:c.1719+1119_1719+1122delinsAGGG ENSP00000494557.1:n.1719+1119_1719+1122delinsAGGG
ENST00000645032.1:c.3024_3027delinsAGGG MANE Select ENSP00000495537.1:p.Glu1008=
ENST00000645124.1:c.*101+1119_*101+1122delinsAGGG ENSP00000496446.1:n.*101+1119_*101+1122delinsAGGG
ENST00000646020.1:c.*594+1119_*594+1122delinsAGGG ENSP00000494745.1:n.*594+1119_*594+1122delinsAGGG
ENST00000318842.11:c.1905+1119_1905+1122delinsAGGG ENSP00000322219.6:n.1905+1119_1905+1122delinsAGGG
ENST00000339363.7:c.2520+1119_2520+1122delinsAGGG ENSP00000343671.3:n.2520+1119_2520+1122delinsAGGG
ENST00000378505.6:c.3024_3027delinsAGGG ENSP00000367766.2:p.Glu1008=
ENST00000465127.1:c.172-380149_172-380146delinsCCCT ENSP00000417050.1:n.172-380149_172-380146delinsCCCT
ENST00000474584.5:c.*37+4984_*37+4987delinsAGGG ENSP00000418926.1:n.*37+4984_*37+4987delinsAGGG
ENST00000482855.5:c.1905+1119_1905+1122delinsAGGG ENSP00000419276.1:n.1905+1119_1905+1122delinsAGGG
ENST00000494707.5:c.139+4984_139+4987delinsAGGG
NM_000328.2:c.1905+1119_1905+1122delinsAGGG NP_000319.1:n.1905+1119_1905+1122delinsAGGG
NM_001034853.1:c.3024_3027delinsAGGG NP_001030025.1:p.Glu1008=
XM_005272633.1:c.1572+4984_1572+4987delinsAGGG XP_005272690.1:n.1572+4984_1572+4987delinsAGGG
XM_011543940.1:c.1902+1119_1902+1122delinsAGGG XP_011542242.1:n.1902+1119_1902+1122delinsAGGG
XM_005272633.3:c.1572+4984_1572+4987delinsAGGG XP_005272690.1:n.1572+4984_1572+4987delinsAGGG
XM_011543940.3:c.1902+1119_1902+1122delinsAGGG XP_011542242.1:n.1902+1119_1902+1122delinsAGGG
XM_017029712.2:c.1569+4984_1569+4987delinsAGGG XP_016885201.1:n.1569+4984_1569+4987delinsAGGG
NM_001367245.1:c.1902+1119_1902+1122delinsAGGG NP_001354174.1:n.1902+1119_1902+1122delinsAGGG
NM_001367246.1:c.1719+1119_1719+1122delinsAGGG NP_001354175.1:n.1719+1119_1719+1122delinsAGGG
NM_001367247.1:c.1572+4984_1572+4987delinsAGGG NP_001354176.1:n.1572+4984_1572+4987delinsAGGG
NM_001367248.1:c.1602+4984_1602+4987delinsAGGG NP_001354177.1:n.1602+4984_1602+4987delinsAGGG
NM_001367249.1:c.1569+4984_1569+4987delinsAGGG NP_001354178.1:n.1569+4984_1569+4987delinsAGGG
NM_001367250.1:c.1569+4984_1569+4987delinsAGGG NP_001354179.1:n.1569+4984_1569+4987delinsAGGG
NM_001367251.1:c.1386+4984_1386+4987delinsAGGG NP_001354180.1:n.1386+4984_1386+4987delinsAGGG
NR_159803.1:n.2263+1119_2263+1122delinsAGGG
NR_159804.1:n.1648+4984_1648+4987delinsAGGG
NR_159805.1:n.1714+4984_1714+4987delinsAGGG
NR_159806.1:n.1866+1119_1866+1122delinsAGGG
NR_159807.1:n.1622+4984_1622+4987delinsAGGG
NR_159808.1:n.1826+4984_1826+4987delinsAGGG
NM_000328.3:c.1905+1119_1905+1122delinsAGGG NP_000319.1:n.1905+1119_1905+1122delinsAGGG
NM_001034853.2:c.3024_3027delinsAGGG MANE Select NP_001030025.1:p.Glu1008=