Canonical Allele Identifier: CA2820486446
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285621_38285622insTTTTTTTT , CM000685.2:g.38285621_38285622insTTTTTTTT GRCh38
NC_000023.10:g.38144874_38144875insTTTTTTTT , CM000685.1:g.38144874_38144875insTTTTTTTT GRCh37
NC_000023.9:g.38029818_38029819insTTTTTTTT NCBI36
NG_009553.1:g.46918_46919insAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+2247_953+2248insAAAAAAAA
ENST00000642170.1:n.1826+5341_1826+5342insAAAAAAAA
ENST00000642395.2:c.1905+1476_1905+1477insAAAAAAAA ENSP00000493468.2:n.1905+1476_1905+1477insAAAAAAAA
ENST00000642739.1:c.1572+5341_1572+5342insAAAAAAAA ENSP00000493596.1:n.1572+5341_1572+5342insAAAAAAAA
ENST00000644238.1:c.1386+5341_1386+5342insAAAAAAAA ENSP00000496728.1:n.1386+5341_1386+5342insAAAAAAAA
ENST00000644337.1:c.1719+1476_1719+1477insAAAAAAAA ENSP00000494557.1:n.1719+1476_1719+1477insAAAAAAAA
ENST00000645032.1:c.3381_3382insAAAAAAAA MANE Select ENSP00000495537.1:p.Arg1128LysfsTer6
ENST00000645124.1:c.*101+1476_*101+1477insAAAAAAAA ENSP00000496446.1:n.*101+1476_*101+1477insAAAAAAAA
ENST00000646020.1:c.*594+1476_*594+1477insAAAAAAAA ENSP00000494745.1:n.*594+1476_*594+1477insAAAAAAAA
ENST00000318842.11:c.1905+1476_1905+1477insAAAAAAAA ENSP00000322219.6:n.1905+1476_1905+1477insAAAAAAAA
ENST00000339363.7:c.2520+1476_2520+1477insAAAAAAAA ENSP00000343671.3:n.2520+1476_2520+1477insAAAAAAAA
ENST00000378505.6:c.3381_3382insAAAAAAAA ENSP00000367766.2:p.Arg1128LysfsTer6
ENST00000465127.1:c.172-380500_172-380499insTTTTTTTT ENSP00000417050.1:n.172-380500_172-380499insTTTTTTTT
ENST00000474584.5:c.*37+5341_*37+5342insAAAAAAAA ENSP00000418926.1:n.*37+5341_*37+5342insAAAAAAAA
ENST00000482855.5:c.1905+1476_1905+1477insAAAAAAAA ENSP00000419276.1:n.1905+1476_1905+1477insAAAAAAAA
ENST00000494707.5:c.139+5341_139+5342insAAAAAAAA
NM_000328.2:c.1905+1476_1905+1477insAAAAAAAA NP_000319.1:n.1905+1476_1905+1477insAAAAAAAA
NM_001034853.1:c.3381_3382insAAAAAAAA NP_001030025.1:p.Arg1128LysfsTer6
XM_005272633.1:c.1572+5341_1572+5342insAAAAAAAA XP_005272690.1:n.1572+5341_1572+5342insAAAAAAAA
XM_011543940.1:c.1902+1476_1902+1477insAAAAAAAA XP_011542242.1:n.1902+1476_1902+1477insAAAAAAAA
XM_005272633.3:c.1572+5341_1572+5342insAAAAAAAA XP_005272690.1:n.1572+5341_1572+5342insAAAAAAAA
XM_011543940.3:c.1902+1476_1902+1477insAAAAAAAA XP_011542242.1:n.1902+1476_1902+1477insAAAAAAAA
XM_017029712.2:c.1569+5341_1569+5342insAAAAAAAA XP_016885201.1:n.1569+5341_1569+5342insAAAAAAAA
NM_001367245.1:c.1902+1476_1902+1477insAAAAAAAA NP_001354174.1:n.1902+1476_1902+1477insAAAAAAAA
NM_001367246.1:c.1719+1476_1719+1477insAAAAAAAA NP_001354175.1:n.1719+1476_1719+1477insAAAAAAAA
NM_001367247.1:c.1572+5341_1572+5342insAAAAAAAA NP_001354176.1:n.1572+5341_1572+5342insAAAAAAAA
NM_001367248.1:c.1602+5341_1602+5342insAAAAAAAA NP_001354177.1:n.1602+5341_1602+5342insAAAAAAAA
NM_001367249.1:c.1569+5341_1569+5342insAAAAAAAA NP_001354178.1:n.1569+5341_1569+5342insAAAAAAAA
NM_001367250.1:c.1569+5341_1569+5342insAAAAAAAA NP_001354179.1:n.1569+5341_1569+5342insAAAAAAAA
NM_001367251.1:c.1386+5341_1386+5342insAAAAAAAA NP_001354180.1:n.1386+5341_1386+5342insAAAAAAAA
NR_159803.1:n.2263+1476_2263+1477insAAAAAAAA
NR_159804.1:n.1648+5341_1648+5342insAAAAAAAA
NR_159805.1:n.1714+5341_1714+5342insAAAAAAAA
NR_159806.1:n.1866+1476_1866+1477insAAAAAAAA
NR_159807.1:n.1622+5341_1622+5342insAAAAAAAA
NR_159808.1:n.1826+5341_1826+5342insAAAAAAAA
NM_000328.3:c.1905+1476_1905+1477insAAAAAAAA NP_000319.1:n.1905+1476_1905+1477insAAAAAAAA
NM_001034853.2:c.3381_3382insAAAAAAAA MANE Select NP_001030025.1:p.Arg1128LysfsTer6