Canonical Allele Identifier: CA875125842
Gene: RPGR HGNC NCBI

Linked Data

ClinVar Variation Id: 2195891
ClinVar RCV Id: RCV002633246
dbSNP Id: rs1193509492

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286405_38286419del , CM000685.2:g.38286405_38286419del GRCh38
NC_000023.10:g.38145658_38145672del , CM000685.1:g.38145658_38145672del GRCh37
NC_000023.9:g.38030602_38030616del NCBI36
NG_009553.1:g.46126_46140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1455_953+1469del
ENST00000642170.1:n.1826+4549_1826+4563del
ENST00000642395.2:c.1905+684_1905+698del ENSP00000493468.2:n.1905+684_1905+698del
ENST00000642739.1:c.1572+4549_1572+4563del ENSP00000493596.1:n.1572+4549_1572+4563del
ENST00000644238.1:c.1386+4549_1386+4563del ENSP00000496728.1:n.1386+4549_1386+4563del
ENST00000644337.1:c.1719+684_1719+698del ENSP00000494557.1:n.1719+684_1719+698del
ENST00000645032.1:c.2589_2603del MANE Select ENSP00000495537.1:p.Glu864_Glu868del
ENST00000645124.1:c.*101+684_*101+698del ENSP00000496446.1:n.*101+684_*101+698del
ENST00000646020.1:c.*594+684_*594+698del ENSP00000494745.1:n.*594+684_*594+698del
ENST00000318842.11:c.1905+684_1905+698del ENSP00000322219.6:n.1905+684_1905+698del
ENST00000339363.7:c.2520+684_2520+698del ENSP00000343671.3:n.2520+684_2520+698del
ENST00000378505.6:c.2589_2603del ENSP00000367766.2:p.Glu864_Glu868del
ENST00000465127.1:c.172-379716_172-379702del ENSP00000417050.1:n.172-379716_172-379702del
ENST00000474584.5:c.*37+4549_*37+4563del ENSP00000418926.1:n.*37+4549_*37+4563del
ENST00000482855.5:c.1905+684_1905+698del ENSP00000419276.1:n.1905+684_1905+698del
ENST00000494707.5:c.139+4549_139+4563del
NM_000328.2:c.1905+684_1905+698del NP_000319.1:n.1905+684_1905+698del
NM_001034853.1:c.2589_2603del NP_001030025.1:p.Glu864_Glu868del
XM_005272633.1:c.1572+4549_1572+4563del XP_005272690.1:n.1572+4549_1572+4563del
XM_011543940.1:c.1902+684_1902+698del XP_011542242.1:n.1902+684_1902+698del
XM_005272633.3:c.1572+4549_1572+4563del XP_005272690.1:n.1572+4549_1572+4563del
XM_011543940.3:c.1902+684_1902+698del XP_011542242.1:n.1902+684_1902+698del
XM_017029712.2:c.1569+4549_1569+4563del XP_016885201.1:n.1569+4549_1569+4563del
NM_001367245.1:c.1902+684_1902+698del NP_001354174.1:n.1902+684_1902+698del
NM_001367246.1:c.1719+684_1719+698del NP_001354175.1:n.1719+684_1719+698del
NM_001367247.1:c.1572+4549_1572+4563del NP_001354176.1:n.1572+4549_1572+4563del
NM_001367248.1:c.1602+4549_1602+4563del NP_001354177.1:n.1602+4549_1602+4563del
NM_001367249.1:c.1569+4549_1569+4563del NP_001354178.1:n.1569+4549_1569+4563del
NM_001367250.1:c.1569+4549_1569+4563del NP_001354179.1:n.1569+4549_1569+4563del
NM_001367251.1:c.1386+4549_1386+4563del NP_001354180.1:n.1386+4549_1386+4563del
NR_159803.1:n.2263+684_2263+698del
NR_159804.1:n.1648+4549_1648+4563del
NR_159805.1:n.1714+4549_1714+4563del
NR_159806.1:n.1866+684_1866+698del
NR_159807.1:n.1622+4549_1622+4563del
NR_159808.1:n.1826+4549_1826+4563del
NM_000328.3:c.1905+684_1905+698del NP_000319.1:n.1905+684_1905+698del
NM_001034853.2:c.2589_2603del MANE Select NP_001030025.1:p.Glu864_Glu868del