Canonical Allele Identifier: CA2424844254
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285948_38285951delinsCTCT , CM000685.2:g.38285948_38285951delinsCTCT GRCh38
NC_000023.10:g.38145201_38145204delinsCTCT , CM000685.1:g.38145201_38145204delinsCTCT GRCh37
NC_000023.9:g.38030145_38030148delinsCTCT NCBI36
NG_009553.1:g.46585_46588delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1914_953+1917delinsAGAG
ENST00000642170.1:n.1826+5008_1826+5011delinsAGAG
ENST00000642395.2:c.1905+1143_1905+1146delinsAGAG ENSP00000493468.2:n.1905+1143_1905+1146delinsAGAG
ENST00000642739.1:c.1572+5008_1572+5011delinsAGAG ENSP00000493596.1:n.1572+5008_1572+5011delinsAGAG
ENST00000644238.1:c.1386+5008_1386+5011delinsAGAG ENSP00000496728.1:n.1386+5008_1386+5011delinsAGAG
ENST00000644337.1:c.1719+1143_1719+1146delinsAGAG ENSP00000494557.1:n.1719+1143_1719+1146delinsAGAG
ENST00000645032.1:c.3048_3051delinsAGAG MANE Select ENSP00000495537.1:p.Glu1016=
ENST00000645124.1:c.*101+1143_*101+1146delinsAGAG ENSP00000496446.1:n.*101+1143_*101+1146delinsAGAG
ENST00000646020.1:c.*594+1143_*594+1146delinsAGAG ENSP00000494745.1:n.*594+1143_*594+1146delinsAGAG
ENST00000318842.11:c.1905+1143_1905+1146delinsAGAG ENSP00000322219.6:n.1905+1143_1905+1146delinsAGAG
ENST00000339363.7:c.2520+1143_2520+1146delinsAGAG ENSP00000343671.3:n.2520+1143_2520+1146delinsAGAG
ENST00000378505.6:c.3048_3051delinsAGAG ENSP00000367766.2:p.Glu1016=
ENST00000465127.1:c.172-380173_172-380170delinsCTCT ENSP00000417050.1:n.172-380173_172-380170delinsCTCT
ENST00000474584.5:c.*37+5008_*37+5011delinsAGAG ENSP00000418926.1:n.*37+5008_*37+5011delinsAGAG
ENST00000482855.5:c.1905+1143_1905+1146delinsAGAG ENSP00000419276.1:n.1905+1143_1905+1146delinsAGAG
ENST00000494707.5:c.139+5008_139+5011delinsAGAG
NM_000328.2:c.1905+1143_1905+1146delinsAGAG NP_000319.1:n.1905+1143_1905+1146delinsAGAG
NM_001034853.1:c.3048_3051delinsAGAG NP_001030025.1:p.Glu1016=
XM_005272633.1:c.1572+5008_1572+5011delinsAGAG XP_005272690.1:n.1572+5008_1572+5011delinsAGAG
XM_011543940.1:c.1902+1143_1902+1146delinsAGAG XP_011542242.1:n.1902+1143_1902+1146delinsAGAG
XM_005272633.3:c.1572+5008_1572+5011delinsAGAG XP_005272690.1:n.1572+5008_1572+5011delinsAGAG
XM_011543940.3:c.1902+1143_1902+1146delinsAGAG XP_011542242.1:n.1902+1143_1902+1146delinsAGAG
XM_017029712.2:c.1569+5008_1569+5011delinsAGAG XP_016885201.1:n.1569+5008_1569+5011delinsAGAG
NM_001367245.1:c.1902+1143_1902+1146delinsAGAG NP_001354174.1:n.1902+1143_1902+1146delinsAGAG
NM_001367246.1:c.1719+1143_1719+1146delinsAGAG NP_001354175.1:n.1719+1143_1719+1146delinsAGAG
NM_001367247.1:c.1572+5008_1572+5011delinsAGAG NP_001354176.1:n.1572+5008_1572+5011delinsAGAG
NM_001367248.1:c.1602+5008_1602+5011delinsAGAG NP_001354177.1:n.1602+5008_1602+5011delinsAGAG
NM_001367249.1:c.1569+5008_1569+5011delinsAGAG NP_001354178.1:n.1569+5008_1569+5011delinsAGAG
NM_001367250.1:c.1569+5008_1569+5011delinsAGAG NP_001354179.1:n.1569+5008_1569+5011delinsAGAG
NM_001367251.1:c.1386+5008_1386+5011delinsAGAG NP_001354180.1:n.1386+5008_1386+5011delinsAGAG
NR_159803.1:n.2263+1143_2263+1146delinsAGAG
NR_159804.1:n.1648+5008_1648+5011delinsAGAG
NR_159805.1:n.1714+5008_1714+5011delinsAGAG
NR_159806.1:n.1866+1143_1866+1146delinsAGAG
NR_159807.1:n.1622+5008_1622+5011delinsAGAG
NR_159808.1:n.1826+5008_1826+5011delinsAGAG
NM_000328.3:c.1905+1143_1905+1146delinsAGAG NP_000319.1:n.1905+1143_1905+1146delinsAGAG
NM_001034853.2:c.3048_3051delinsAGAG MANE Select NP_001030025.1:p.Glu1016=