Canonical Allele Identifier: CA2516883468
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285873_38285874insG , CM000685.2:g.38285873_38285874insG GRCh38
NC_000023.10:g.38145126_38145127insG , CM000685.1:g.38145126_38145127insG GRCh37
NC_000023.9:g.38030070_38030071insG NCBI36
NG_009553.1:g.46662_46663insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1991_953+1992insC
ENST00000642170.1:n.1826+5085_1826+5086insC
ENST00000642395.2:c.1905+1220_1905+1221insC ENSP00000493468.2:n.1905+1220_1905+1221insC
ENST00000642739.1:c.1572+5085_1572+5086insC ENSP00000493596.1:n.1572+5085_1572+5086insC
ENST00000644238.1:c.1386+5085_1386+5086insC ENSP00000496728.1:n.1386+5085_1386+5086insC
ENST00000644337.1:c.1719+1220_1719+1221insC ENSP00000494557.1:n.1719+1220_1719+1221insC
ENST00000645032.1:c.3125_3126insC MANE Select ENSP00000495537.1:p.Glu1042AspfsTer?
ENST00000645124.1:c.*101+1220_*101+1221insC ENSP00000496446.1:n.*101+1220_*101+1221insC
ENST00000646020.1:c.*594+1220_*594+1221insC ENSP00000494745.1:n.*594+1220_*594+1221insC
ENST00000318842.11:c.1905+1220_1905+1221insC ENSP00000322219.6:n.1905+1220_1905+1221insC
ENST00000339363.7:c.2520+1220_2520+1221insC ENSP00000343671.3:n.2520+1220_2520+1221insC
ENST00000378505.6:c.3125_3126insC ENSP00000367766.2:p.Glu1042AspfsTer?
ENST00000465127.1:c.172-380248_172-380247insG ENSP00000417050.1:n.172-380248_172-380247insG
ENST00000474584.5:c.*37+5085_*37+5086insC ENSP00000418926.1:n.*37+5085_*37+5086insC
ENST00000482855.5:c.1905+1220_1905+1221insC ENSP00000419276.1:n.1905+1220_1905+1221insC
ENST00000494707.5:c.139+5085_139+5086insC
NM_000328.2:c.1905+1220_1905+1221insC NP_000319.1:n.1905+1220_1905+1221insC
NM_001034853.1:c.3125_3126insC NP_001030025.1:p.Glu1042AspfsTer?
XM_005272633.1:c.1572+5085_1572+5086insC XP_005272690.1:n.1572+5085_1572+5086insC
XM_011543940.1:c.1902+1220_1902+1221insC XP_011542242.1:n.1902+1220_1902+1221insC
XM_005272633.3:c.1572+5085_1572+5086insC XP_005272690.1:n.1572+5085_1572+5086insC
XM_011543940.3:c.1902+1220_1902+1221insC XP_011542242.1:n.1902+1220_1902+1221insC
XM_017029712.2:c.1569+5085_1569+5086insC XP_016885201.1:n.1569+5085_1569+5086insC
NM_001367245.1:c.1902+1220_1902+1221insC NP_001354174.1:n.1902+1220_1902+1221insC
NM_001367246.1:c.1719+1220_1719+1221insC NP_001354175.1:n.1719+1220_1719+1221insC
NM_001367247.1:c.1572+5085_1572+5086insC NP_001354176.1:n.1572+5085_1572+5086insC
NM_001367248.1:c.1602+5085_1602+5086insC NP_001354177.1:n.1602+5085_1602+5086insC
NM_001367249.1:c.1569+5085_1569+5086insC NP_001354178.1:n.1569+5085_1569+5086insC
NM_001367250.1:c.1569+5085_1569+5086insC NP_001354179.1:n.1569+5085_1569+5086insC
NM_001367251.1:c.1386+5085_1386+5086insC NP_001354180.1:n.1386+5085_1386+5086insC
NR_159803.1:n.2263+1220_2263+1221insC
NR_159804.1:n.1648+5085_1648+5086insC
NR_159805.1:n.1714+5085_1714+5086insC
NR_159806.1:n.1866+1220_1866+1221insC
NR_159807.1:n.1622+5085_1622+5086insC
NR_159808.1:n.1826+5085_1826+5086insC
NM_000328.3:c.1905+1220_1905+1221insC NP_000319.1:n.1905+1220_1905+1221insC
NM_001034853.2:c.3125_3126insC MANE Select NP_001030025.1:p.Glu1042AspfsTer?