Canonical Allele Identifier: CA412729277
Gene: RPGR HGNC NCBI

Linked Data

dbSNP Id: rs2067132390

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286015_38286020del , CM000685.2:g.38286015_38286020del GRCh38
NC_000023.10:g.38145268_38145273del , CM000685.1:g.38145268_38145273del GRCh37
NC_000023.9:g.38030212_38030217del NCBI36
NG_009553.1:g.46521_46526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1850_953+1855del
ENST00000642170.1:n.1826+4944_1826+4949del
ENST00000642395.2:c.1905+1079_1905+1084del ENSP00000493468.2:n.1905+1079_1905+1084del
ENST00000642739.1:c.1572+4944_1572+4949del ENSP00000493596.1:n.1572+4944_1572+4949del
ENST00000644238.1:c.1386+4944_1386+4949del ENSP00000496728.1:n.1386+4944_1386+4949del
ENST00000644337.1:c.1719+1079_1719+1084del ENSP00000494557.1:n.1719+1079_1719+1084del
ENST00000645032.1:c.2984_2989del MANE Select ENSP00000495537.1:p.Gly995_Glu996del
ENST00000645124.1:c.*101+1079_*101+1084del ENSP00000496446.1:n.*101+1079_*101+1084del
ENST00000646020.1:c.*594+1079_*594+1084del ENSP00000494745.1:n.*594+1079_*594+1084del
ENST00000318842.11:c.1905+1079_1905+1084del ENSP00000322219.6:n.1905+1079_1905+1084del
ENST00000339363.7:c.2520+1079_2520+1084del ENSP00000343671.3:n.2520+1079_2520+1084del
ENST00000378505.6:c.2984_2989del ENSP00000367766.2:p.Gly995_Glu996del
ENST00000465127.1:c.172-380106_172-380101del ENSP00000417050.1:n.172-380106_172-380101del
ENST00000474584.5:c.*37+4944_*37+4949del ENSP00000418926.1:n.*37+4944_*37+4949del
ENST00000482855.5:c.1905+1079_1905+1084del ENSP00000419276.1:n.1905+1079_1905+1084del
ENST00000494707.5:c.139+4944_139+4949del
NM_000328.2:c.1905+1079_1905+1084del NP_000319.1:n.1905+1079_1905+1084del
NM_001034853.1:c.2984_2989del NP_001030025.1:p.Gly995_Glu996del
XM_005272633.1:c.1572+4944_1572+4949del XP_005272690.1:n.1572+4944_1572+4949del
XM_011543940.1:c.1902+1079_1902+1084del XP_011542242.1:n.1902+1079_1902+1084del
XM_005272633.3:c.1572+4944_1572+4949del XP_005272690.1:n.1572+4944_1572+4949del
XM_011543940.3:c.1902+1079_1902+1084del XP_011542242.1:n.1902+1079_1902+1084del
XM_017029712.2:c.1569+4944_1569+4949del XP_016885201.1:n.1569+4944_1569+4949del
NM_001367245.1:c.1902+1079_1902+1084del NP_001354174.1:n.1902+1079_1902+1084del
NM_001367246.1:c.1719+1079_1719+1084del NP_001354175.1:n.1719+1079_1719+1084del
NM_001367247.1:c.1572+4944_1572+4949del NP_001354176.1:n.1572+4944_1572+4949del
NM_001367248.1:c.1602+4944_1602+4949del NP_001354177.1:n.1602+4944_1602+4949del
NM_001367249.1:c.1569+4944_1569+4949del NP_001354178.1:n.1569+4944_1569+4949del
NM_001367250.1:c.1569+4944_1569+4949del NP_001354179.1:n.1569+4944_1569+4949del
NM_001367251.1:c.1386+4944_1386+4949del NP_001354180.1:n.1386+4944_1386+4949del
NR_159803.1:n.2263+1079_2263+1084del
NR_159804.1:n.1648+4944_1648+4949del
NR_159805.1:n.1714+4944_1714+4949del
NR_159806.1:n.1866+1079_1866+1084del
NR_159807.1:n.1622+4944_1622+4949del
NR_159808.1:n.1826+4944_1826+4949del
NM_000328.3:c.1905+1079_1905+1084del NP_000319.1:n.1905+1079_1905+1084del
NM_001034853.2:c.2984_2989del MANE Select NP_001030025.1:p.Gly995_Glu996del