Canonical Allele Identifier: CA2424844305
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286008_38286023delinsTTCTTCCCCTTCCTCC , CM000685.2:g.38286008_38286023delinsTTCTTCCCCTTCCTCC GRCh38
NC_000023.10:g.38145261_38145276delinsTTCTTCCCCTTCCTCC , CM000685.1:g.38145261_38145276delinsTTCTTCCCCTTCCTCC GRCh37
NC_000023.9:g.38030205_38030220delinsTTCTTCCCCTTCCTCC NCBI36
NG_009553.1:g.46513_46528delinsGGAGGAAGGGGAAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1842_953+1857delinsGGAGGAAGGGGAAGAA
ENST00000642170.1:n.1826+4936_1826+4951delinsGGAGGAAGGGGAAGAA
ENST00000642395.2:c.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA ENSP00000493468.2:n.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA...
ENST00000642739.1:c.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA ENSP00000493596.1:n.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA...
ENST00000644238.1:c.1386+4936_1386+4951delinsGGAGGAAGGGGAAGAA ENSP00000496728.1:n.1386+4936_1386+4951delinsGGAGGAAGGGGAAGAA...
ENST00000644337.1:c.1719+1071_1719+1086delinsGGAGGAAGGGGAAGAA ENSP00000494557.1:n.1719+1071_1719+1086delinsGGAGGAAGGGGAAGAA...
ENST00000645032.1:c.2976_2991delinsGGAGGAAGGGGAAGAA MANE Select ENSP00000495537.1:p.Glu992=
ENST00000645124.1:c.*101+1071_*101+1086delinsGGAGGAAGGGGAAGAA ENSP00000496446.1:n.*101+1071_*101+1086delinsGGAGGAAGGGGAAGAA...
ENST00000646020.1:c.*594+1071_*594+1086delinsGGAGGAAGGGGAAGAA ENSP00000494745.1:n.*594+1071_*594+1086delinsGGAGGAAGGGGAAGAA...
ENST00000318842.11:c.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA ENSP00000322219.6:n.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA...
ENST00000339363.7:c.2520+1071_2520+1086delinsGGAGGAAGGGGAAGAA ENSP00000343671.3:n.2520+1071_2520+1086delinsGGAGGAAGGGGAAGAA...
ENST00000378505.6:c.2976_2991delinsGGAGGAAGGGGAAGAA ENSP00000367766.2:p.Glu992=
ENST00000465127.1:c.172-380113_172-380098delinsTTCTTCCCCTTCCTCC ENSP00000417050.1:n.172-380113_172-380098delinsTTCTTCCCCTTCCT...
ENST00000474584.5:c.*37+4936_*37+4951delinsGGAGGAAGGGGAAGAA ENSP00000418926.1:n.*37+4936_*37+4951delinsGGAGGAAGGGGAAGAA
ENST00000482855.5:c.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA ENSP00000419276.1:n.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA...
ENST00000494707.5:c.139+4936_139+4951delinsGGAGGAAGGGGAAGAA
NM_000328.2:c.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA NP_000319.1:n.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA
NM_001034853.1:c.2976_2991delinsGGAGGAAGGGGAAGAA NP_001030025.1:p.Glu992=
XM_005272633.1:c.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA XP_005272690.1:n.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA
XM_011543940.1:c.1902+1071_1902+1086delinsGGAGGAAGGGGAAGAA XP_011542242.1:n.1902+1071_1902+1086delinsGGAGGAAGGGGAAGAA
XM_005272633.3:c.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA XP_005272690.1:n.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA
XM_011543940.3:c.1902+1071_1902+1086delinsGGAGGAAGGGGAAGAA XP_011542242.1:n.1902+1071_1902+1086delinsGGAGGAAGGGGAAGAA
XM_017029712.2:c.1569+4936_1569+4951delinsGGAGGAAGGGGAAGAA XP_016885201.1:n.1569+4936_1569+4951delinsGGAGGAAGGGGAAGAA
NM_001367245.1:c.1902+1071_1902+1086delinsGGAGGAAGGGGAAGAA NP_001354174.1:n.1902+1071_1902+1086delinsGGAGGAAGGGGAAGAA
NM_001367246.1:c.1719+1071_1719+1086delinsGGAGGAAGGGGAAGAA NP_001354175.1:n.1719+1071_1719+1086delinsGGAGGAAGGGGAAGAA
NM_001367247.1:c.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA NP_001354176.1:n.1572+4936_1572+4951delinsGGAGGAAGGGGAAGAA
NM_001367248.1:c.1602+4936_1602+4951delinsGGAGGAAGGGGAAGAA NP_001354177.1:n.1602+4936_1602+4951delinsGGAGGAAGGGGAAGAA
NM_001367249.1:c.1569+4936_1569+4951delinsGGAGGAAGGGGAAGAA NP_001354178.1:n.1569+4936_1569+4951delinsGGAGGAAGGGGAAGAA
NM_001367250.1:c.1569+4936_1569+4951delinsGGAGGAAGGGGAAGAA NP_001354179.1:n.1569+4936_1569+4951delinsGGAGGAAGGGGAAGAA
NM_001367251.1:c.1386+4936_1386+4951delinsGGAGGAAGGGGAAGAA NP_001354180.1:n.1386+4936_1386+4951delinsGGAGGAAGGGGAAGAA
NR_159803.1:n.2263+1071_2263+1086delinsGGAGGAAGGGGAAGAA
NR_159804.1:n.1648+4936_1648+4951delinsGGAGGAAGGGGAAGAA
NR_159805.1:n.1714+4936_1714+4951delinsGGAGGAAGGGGAAGAA
NR_159806.1:n.1866+1071_1866+1086delinsGGAGGAAGGGGAAGAA
NR_159807.1:n.1622+4936_1622+4951delinsGGAGGAAGGGGAAGAA
NR_159808.1:n.1826+4936_1826+4951delinsGGAGGAAGGGGAAGAA
NM_000328.3:c.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA NP_000319.1:n.1905+1071_1905+1086delinsGGAGGAAGGGGAAGAA
NM_001034853.2:c.2976_2991delinsGGAGGAAGGGGAAGAA MANE Select NP_001030025.1:p.Glu992=