Canonical Allele Identifier: CA1132419325
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285968_38285969insTT , CM000685.2:g.38285968_38285969insTT GRCh38
NC_000023.10:g.38145221_38145222insTT , CM000685.1:g.38145221_38145222insTT GRCh37
NC_000023.9:g.38030165_38030166insTT NCBI36
NG_009553.1:g.46567_46568insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1896_953+1897insAA
ENST00000642170.1:n.1826+4990_1826+4991insAA
ENST00000642395.2:c.1905+1125_1905+1126insAA ENSP00000493468.2:n.1905+1125_1905+1126insAA
ENST00000642739.1:c.1572+4990_1572+4991insAA ENSP00000493596.1:n.1572+4990_1572+4991insAA
ENST00000644238.1:c.1386+4990_1386+4991insAA ENSP00000496728.1:n.1386+4990_1386+4991insAA
ENST00000644337.1:c.1719+1125_1719+1126insAA ENSP00000494557.1:n.1719+1125_1719+1126insAA
ENST00000645032.1:c.3030_3031insAA MANE Select ENSP00000495537.1:p.Gly1011LysfsTer?
ENST00000645124.1:c.*101+1125_*101+1126insAA ENSP00000496446.1:n.*101+1125_*101+1126insAA
ENST00000646020.1:c.*594+1125_*594+1126insAA ENSP00000494745.1:n.*594+1125_*594+1126insAA
ENST00000318842.11:c.1905+1125_1905+1126insAA ENSP00000322219.6:n.1905+1125_1905+1126insAA
ENST00000339363.7:c.2520+1125_2520+1126insAA ENSP00000343671.3:n.2520+1125_2520+1126insAA
ENST00000378505.6:c.3030_3031insAA ENSP00000367766.2:p.Gly1011LysfsTer?
ENST00000465127.1:c.172-380153_172-380152insTT ENSP00000417050.1:n.172-380153_172-380152insTT
ENST00000474584.5:c.*37+4990_*37+4991insAA ENSP00000418926.1:n.*37+4990_*37+4991insAA
ENST00000482855.5:c.1905+1125_1905+1126insAA ENSP00000419276.1:n.1905+1125_1905+1126insAA
ENST00000494707.5:c.139+4990_139+4991insAA
NM_000328.2:c.1905+1125_1905+1126insAA NP_000319.1:n.1905+1125_1905+1126insAA
NM_001034853.1:c.3030_3031insAA NP_001030025.1:p.Gly1011LysfsTer?
XM_005272633.1:c.1572+4990_1572+4991insAA XP_005272690.1:n.1572+4990_1572+4991insAA
XM_011543940.1:c.1902+1125_1902+1126insAA XP_011542242.1:n.1902+1125_1902+1126insAA
XM_005272633.3:c.1572+4990_1572+4991insAA XP_005272690.1:n.1572+4990_1572+4991insAA
XM_011543940.3:c.1902+1125_1902+1126insAA XP_011542242.1:n.1902+1125_1902+1126insAA
XM_017029712.2:c.1569+4990_1569+4991insAA XP_016885201.1:n.1569+4990_1569+4991insAA
NM_001367245.1:c.1902+1125_1902+1126insAA NP_001354174.1:n.1902+1125_1902+1126insAA
NM_001367246.1:c.1719+1125_1719+1126insAA NP_001354175.1:n.1719+1125_1719+1126insAA
NM_001367247.1:c.1572+4990_1572+4991insAA NP_001354176.1:n.1572+4990_1572+4991insAA
NM_001367248.1:c.1602+4990_1602+4991insAA NP_001354177.1:n.1602+4990_1602+4991insAA
NM_001367249.1:c.1569+4990_1569+4991insAA NP_001354178.1:n.1569+4990_1569+4991insAA
NM_001367250.1:c.1569+4990_1569+4991insAA NP_001354179.1:n.1569+4990_1569+4991insAA
NM_001367251.1:c.1386+4990_1386+4991insAA NP_001354180.1:n.1386+4990_1386+4991insAA
NR_159803.1:n.2263+1125_2263+1126insAA
NR_159804.1:n.1648+4990_1648+4991insAA
NR_159805.1:n.1714+4990_1714+4991insAA
NR_159806.1:n.1866+1125_1866+1126insAA
NR_159807.1:n.1622+4990_1622+4991insAA
NR_159808.1:n.1826+4990_1826+4991insAA
NM_000328.3:c.1905+1125_1905+1126insAA NP_000319.1:n.1905+1125_1905+1126insAA
NM_001034853.2:c.3030_3031insAA MANE Select NP_001030025.1:p.Gly1011LysfsTer?