Canonical Allele Identifier: CA2552069555

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286130_38286131insA , CM000685.2:g.38286130_38286131insA	GRCh38
NC_000023.10:g.38145383_38145384insA , CM000685.1:g.38145383_38145384insA	GRCh37
NC_000023.9:g.38030327_38030328insA	NCBI36
NG_009553.1:g.46405_46406insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1734_953+1735insT
ENST00000642170.1:n.1826+4828_1826+4829insT
ENST00000642395.2:c.1905+963_1905+964insT	ENSP00000493468.2:n.1905+963_1905+964insT
ENST00000642739.1:c.1572+4828_1572+4829insT	ENSP00000493596.1:n.1572+4828_1572+4829insT
ENST00000644238.1:c.1386+4828_1386+4829insT	ENSP00000496728.1:n.1386+4828_1386+4829insT
ENST00000644337.1:c.1719+963_1719+964insT	ENSP00000494557.1:n.1719+963_1719+964insT
ENST00000645032.1:c.2868_2869insT MANE Select	ENSP00000495537.1:p.Gly957TrpfsTer?
ENST00000645124.1:c.*101+963_*101+964insT	ENSP00000496446.1:n.*101+963_*101+964insT
ENST00000646020.1:c.*594+963_*594+964insT	ENSP00000494745.1:n.*594+963_*594+964insT
ENST00000318842.11:c.1905+963_1905+964insT	ENSP00000322219.6:n.1905+963_1905+964insT
ENST00000339363.7:c.2520+963_2520+964insT	ENSP00000343671.3:n.2520+963_2520+964insT
ENST00000378505.6:c.2868_2869insT	ENSP00000367766.2:p.Gly957TrpfsTer?
ENST00000465127.1:c.172-379991_172-379990insA	ENSP00000417050.1:n.172-379991_172-379990insA
ENST00000474584.5:c.*37+4828_*37+4829insT	ENSP00000418926.1:n.*37+4828_*37+4829insT
ENST00000482855.5:c.1905+963_1905+964insT	ENSP00000419276.1:n.1905+963_1905+964insT
ENST00000494707.5:c.139+4828_139+4829insT
NM_000328.2:c.1905+963_1905+964insT	NP_000319.1:n.1905+963_1905+964insT
NM_001034853.1:c.2868_2869insT	NP_001030025.1:p.Gly957TrpfsTer?
XM_005272633.1:c.1572+4828_1572+4829insT	XP_005272690.1:n.1572+4828_1572+4829insT
XM_011543940.1:c.1902+963_1902+964insT	XP_011542242.1:n.1902+963_1902+964insT
XM_005272633.3:c.1572+4828_1572+4829insT	XP_005272690.1:n.1572+4828_1572+4829insT
XM_011543940.3:c.1902+963_1902+964insT	XP_011542242.1:n.1902+963_1902+964insT
XM_017029712.2:c.1569+4828_1569+4829insT	XP_016885201.1:n.1569+4828_1569+4829insT
NM_001367245.1:c.1902+963_1902+964insT	NP_001354174.1:n.1902+963_1902+964insT
NM_001367246.1:c.1719+963_1719+964insT	NP_001354175.1:n.1719+963_1719+964insT
NM_001367247.1:c.1572+4828_1572+4829insT	NP_001354176.1:n.1572+4828_1572+4829insT
NM_001367248.1:c.1602+4828_1602+4829insT	NP_001354177.1:n.1602+4828_1602+4829insT
NM_001367249.1:c.1569+4828_1569+4829insT	NP_001354178.1:n.1569+4828_1569+4829insT
NM_001367250.1:c.1569+4828_1569+4829insT	NP_001354179.1:n.1569+4828_1569+4829insT
NM_001367251.1:c.1386+4828_1386+4829insT	NP_001354180.1:n.1386+4828_1386+4829insT
NR_159803.1:n.2263+963_2263+964insT
NR_159804.1:n.1648+4828_1648+4829insT
NR_159805.1:n.1714+4828_1714+4829insT
NR_159806.1:n.1866+963_1866+964insT
NR_159807.1:n.1622+4828_1622+4829insT
NR_159808.1:n.1826+4828_1826+4829insT
NM_000328.3:c.1905+963_1905+964insT	NP_000319.1:n.1905+963_1905+964insT
NM_001034853.2:c.2868_2869insT MANE Select	NP_001030025.1:p.Gly957TrpfsTer?