Canonical Allele Identifier: CA2553668892
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286030_38286031insT , CM000685.2:g.38286030_38286031insT GRCh38
NC_000023.10:g.38145283_38145284insT , CM000685.1:g.38145283_38145284insT GRCh37
NC_000023.9:g.38030227_38030228insT NCBI36
NG_009553.1:g.46505_46506insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1834_953+1835insA
ENST00000642170.1:n.1826+4928_1826+4929insA
ENST00000642395.2:c.1905+1063_1905+1064insA ENSP00000493468.2:n.1905+1063_1905+1064insA
ENST00000642739.1:c.1572+4928_1572+4929insA ENSP00000493596.1:n.1572+4928_1572+4929insA
ENST00000644238.1:c.1386+4928_1386+4929insA ENSP00000496728.1:n.1386+4928_1386+4929insA
ENST00000644337.1:c.1719+1063_1719+1064insA ENSP00000494557.1:n.1719+1063_1719+1064insA
ENST00000645032.1:c.2968_2969insA MANE Select ENSP00000495537.1:p.Gly990GlufsTer?
ENST00000645124.1:c.*101+1063_*101+1064insA ENSP00000496446.1:n.*101+1063_*101+1064insA
ENST00000646020.1:c.*594+1063_*594+1064insA ENSP00000494745.1:n.*594+1063_*594+1064insA
ENST00000318842.11:c.1905+1063_1905+1064insA ENSP00000322219.6:n.1905+1063_1905+1064insA
ENST00000339363.7:c.2520+1063_2520+1064insA ENSP00000343671.3:n.2520+1063_2520+1064insA
ENST00000378505.6:c.2968_2969insA ENSP00000367766.2:p.Gly990GlufsTer?
ENST00000465127.1:c.172-380091_172-380090insT ENSP00000417050.1:n.172-380091_172-380090insT
ENST00000474584.5:c.*37+4928_*37+4929insA ENSP00000418926.1:n.*37+4928_*37+4929insA
ENST00000482855.5:c.1905+1063_1905+1064insA ENSP00000419276.1:n.1905+1063_1905+1064insA
ENST00000494707.5:c.139+4928_139+4929insA
NM_000328.2:c.1905+1063_1905+1064insA NP_000319.1:n.1905+1063_1905+1064insA
NM_001034853.1:c.2968_2969insA NP_001030025.1:p.Gly990GlufsTer?
XM_005272633.1:c.1572+4928_1572+4929insA XP_005272690.1:n.1572+4928_1572+4929insA
XM_011543940.1:c.1902+1063_1902+1064insA XP_011542242.1:n.1902+1063_1902+1064insA
XM_005272633.3:c.1572+4928_1572+4929insA XP_005272690.1:n.1572+4928_1572+4929insA
XM_011543940.3:c.1902+1063_1902+1064insA XP_011542242.1:n.1902+1063_1902+1064insA
XM_017029712.2:c.1569+4928_1569+4929insA XP_016885201.1:n.1569+4928_1569+4929insA
NM_001367245.1:c.1902+1063_1902+1064insA NP_001354174.1:n.1902+1063_1902+1064insA
NM_001367246.1:c.1719+1063_1719+1064insA NP_001354175.1:n.1719+1063_1719+1064insA
NM_001367247.1:c.1572+4928_1572+4929insA NP_001354176.1:n.1572+4928_1572+4929insA
NM_001367248.1:c.1602+4928_1602+4929insA NP_001354177.1:n.1602+4928_1602+4929insA
NM_001367249.1:c.1569+4928_1569+4929insA NP_001354178.1:n.1569+4928_1569+4929insA
NM_001367250.1:c.1569+4928_1569+4929insA NP_001354179.1:n.1569+4928_1569+4929insA
NM_001367251.1:c.1386+4928_1386+4929insA NP_001354180.1:n.1386+4928_1386+4929insA
NR_159803.1:n.2263+1063_2263+1064insA
NR_159804.1:n.1648+4928_1648+4929insA
NR_159805.1:n.1714+4928_1714+4929insA
NR_159806.1:n.1866+1063_1866+1064insA
NR_159807.1:n.1622+4928_1622+4929insA
NR_159808.1:n.1826+4928_1826+4929insA
NM_000328.3:c.1905+1063_1905+1064insA NP_000319.1:n.1905+1063_1905+1064insA
NM_001034853.2:c.2968_2969insA MANE Select NP_001030025.1:p.Gly990GlufsTer?