Canonical Allele Identifier: CA2424844294
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285999_38286026delinsCTCCCCTTCTTCTTCCCCTTCCTCCTCT , CM000685.2:g.38285999_38286026delinsCTCCCCTTCTTCTTCCCCTTCCTCCTCT GRCh38
NC_000023.10:g.38145252_38145279delinsCTCCCCTTCTTCTTCCCCTTCCTCCTCT , CM000685.1:g.38145252_38145279delinsCTCCCCTTCTTCTTCCCCTTCCTCCTCT GRCh37
NC_000023.9:g.38030196_38030223delinsCTCCCCTTCTTCTTCCCCTTCCTCCTCT NCBI36
NG_009553.1:g.46510_46537delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1839_953+1866delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
ENST00000642170.1:n.1826+4933_1826+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
ENST00000642395.2:c.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000493468.2:n.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAA...
ENST00000642739.1:c.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000493596.1:n.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAA...
ENST00000644238.1:c.1386+4933_1386+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000496728.1:n.1386+4933_1386+4960delinsAGAGGAGGAAGGGGAA...
ENST00000644337.1:c.1719+1068_1719+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000494557.1:n.1719+1068_1719+1095delinsAGAGGAGGAAGGGGAA...
ENST00000645032.1:c.2973_3000delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG MANE Select ENSP00000495537.1:p.Glu991=
ENST00000645124.1:c.*101+1068_*101+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000496446.1:n.*101+1068_*101+1095delinsAGAGGAGGAAGGGGAA...
ENST00000646020.1:c.*594+1068_*594+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000494745.1:n.*594+1068_*594+1095delinsAGAGGAGGAAGGGGAA...
ENST00000318842.11:c.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000322219.6:n.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAA...
ENST00000339363.7:c.2520+1068_2520+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000343671.3:n.2520+1068_2520+1095delinsAGAGGAGGAAGGGGAA...
ENST00000378505.6:c.2973_3000delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000367766.2:p.Glu991=
ENST00000465127.1:c.172-380122_172-380095delinsCTCCCCTTCTTCTTCCCCTTCCTCCTCT ENSP00000417050.1:n.172-380122_172-380095delinsCTCCCCTTCTTCTT...
ENST00000474584.5:c.*37+4933_*37+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000418926.1:n.*37+4933_*37+4960delinsAGAGGAGGAAGGGGAAGA...
ENST00000482855.5:c.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG ENSP00000419276.1:n.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAA...
ENST00000494707.5:c.139+4933_139+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NM_000328.2:c.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_000319.1:n.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAA...
NM_001034853.1:c.2973_3000delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001030025.1:p.Glu991=
XM_005272633.1:c.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG XP_005272690.1:n.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAA...
XM_011543940.1:c.1902+1068_1902+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG XP_011542242.1:n.1902+1068_1902+1095delinsAGAGGAGGAAGGGGAAGAA...
XM_005272633.3:c.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG XP_005272690.1:n.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAA...
XM_011543940.3:c.1902+1068_1902+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG XP_011542242.1:n.1902+1068_1902+1095delinsAGAGGAGGAAGGGGAAGAA...
XM_017029712.2:c.1569+4933_1569+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG XP_016885201.1:n.1569+4933_1569+4960delinsAGAGGAGGAAGGGGAAGAA...
NM_001367245.1:c.1902+1068_1902+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354174.1:n.1902+1068_1902+1095delinsAGAGGAGGAAGGGGAAGAA...
NM_001367246.1:c.1719+1068_1719+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354175.1:n.1719+1068_1719+1095delinsAGAGGAGGAAGGGGAAGAA...
NM_001367247.1:c.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354176.1:n.1572+4933_1572+4960delinsAGAGGAGGAAGGGGAAGAA...
NM_001367248.1:c.1602+4933_1602+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354177.1:n.1602+4933_1602+4960delinsAGAGGAGGAAGGGGAAGAA...
NM_001367249.1:c.1569+4933_1569+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354178.1:n.1569+4933_1569+4960delinsAGAGGAGGAAGGGGAAGAA...
NM_001367250.1:c.1569+4933_1569+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354179.1:n.1569+4933_1569+4960delinsAGAGGAGGAAGGGGAAGAA...
NM_001367251.1:c.1386+4933_1386+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_001354180.1:n.1386+4933_1386+4960delinsAGAGGAGGAAGGGGAAGAA...
NR_159803.1:n.2263+1068_2263+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NR_159804.1:n.1648+4933_1648+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NR_159805.1:n.1714+4933_1714+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NR_159806.1:n.1866+1068_1866+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NR_159807.1:n.1622+4933_1622+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NR_159808.1:n.1826+4933_1826+4960delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG
NM_000328.3:c.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG NP_000319.1:n.1905+1068_1905+1095delinsAGAGGAGGAAGGGGAAGAAGAA...
NM_001034853.2:c.2973_3000delinsAGAGGAGGAAGGGGAAGAAGAAGGGGAG MANE Select NP_001030025.1:p.Glu991=