Canonical Allele Identifier: CA2424844258
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285955_38285967delinsTCCTCCCCTTCTC , CM000685.2:g.38285955_38285967delinsTCCTCCCCTTCTC GRCh38
NC_000023.10:g.38145208_38145220delinsTCCTCCCCTTCTC , CM000685.1:g.38145208_38145220delinsTCCTCCCCTTCTC GRCh37
NC_000023.9:g.38030152_38030164delinsTCCTCCCCTTCTC NCBI36
NG_009553.1:g.46569_46581delinsGAGAAGGGGAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1898_953+1910delinsGAGAAGGGGAGGA
ENST00000642170.1:n.1826+4992_1826+5004delinsGAGAAGGGGAGGA
ENST00000642395.2:c.1905+1127_1905+1139delinsGAGAAGGGGAGGA ENSP00000493468.2:n.1905+1127_1905+1139delinsGAGAAGGGGAGGA
ENST00000642739.1:c.1572+4992_1572+5004delinsGAGAAGGGGAGGA ENSP00000493596.1:n.1572+4992_1572+5004delinsGAGAAGGGGAGGA
ENST00000644238.1:c.1386+4992_1386+5004delinsGAGAAGGGGAGGA ENSP00000496728.1:n.1386+4992_1386+5004delinsGAGAAGGGGAGGA
ENST00000644337.1:c.1719+1127_1719+1139delinsGAGAAGGGGAGGA ENSP00000494557.1:n.1719+1127_1719+1139delinsGAGAAGGGGAGGA
ENST00000645032.1:c.3032_3044delinsGAGAAGGGGAGGA MANE Select ENSP00000495537.1:p.Gly1011=
ENST00000645124.1:c.*101+1127_*101+1139delinsGAGAAGGGGAGGA ENSP00000496446.1:n.*101+1127_*101+1139delinsGAGAAGGGGAGGA
ENST00000646020.1:c.*594+1127_*594+1139delinsGAGAAGGGGAGGA ENSP00000494745.1:n.*594+1127_*594+1139delinsGAGAAGGGGAGGA
ENST00000318842.11:c.1905+1127_1905+1139delinsGAGAAGGGGAGGA ENSP00000322219.6:n.1905+1127_1905+1139delinsGAGAAGGGGAGGA
ENST00000339363.7:c.2520+1127_2520+1139delinsGAGAAGGGGAGGA ENSP00000343671.3:n.2520+1127_2520+1139delinsGAGAAGGGGAGGA
ENST00000378505.6:c.3032_3044delinsGAGAAGGGGAGGA ENSP00000367766.2:p.Gly1011=
ENST00000465127.1:c.172-380166_172-380154delinsTCCTCCCCTTCTC ENSP00000417050.1:n.172-380166_172-380154delinsTCCTCCCCTTCTC
ENST00000474584.5:c.*37+4992_*37+5004delinsGAGAAGGGGAGGA ENSP00000418926.1:n.*37+4992_*37+5004delinsGAGAAGGGGAGGA
ENST00000482855.5:c.1905+1127_1905+1139delinsGAGAAGGGGAGGA ENSP00000419276.1:n.1905+1127_1905+1139delinsGAGAAGGGGAGGA
ENST00000494707.5:c.139+4992_139+5004delinsGAGAAGGGGAGGA
NM_000328.2:c.1905+1127_1905+1139delinsGAGAAGGGGAGGA NP_000319.1:n.1905+1127_1905+1139delinsGAGAAGGGGAGGA
NM_001034853.1:c.3032_3044delinsGAGAAGGGGAGGA NP_001030025.1:p.Gly1011=
XM_005272633.1:c.1572+4992_1572+5004delinsGAGAAGGGGAGGA XP_005272690.1:n.1572+4992_1572+5004delinsGAGAAGGGGAGGA
XM_011543940.1:c.1902+1127_1902+1139delinsGAGAAGGGGAGGA XP_011542242.1:n.1902+1127_1902+1139delinsGAGAAGGGGAGGA
XM_005272633.3:c.1572+4992_1572+5004delinsGAGAAGGGGAGGA XP_005272690.1:n.1572+4992_1572+5004delinsGAGAAGGGGAGGA
XM_011543940.3:c.1902+1127_1902+1139delinsGAGAAGGGGAGGA XP_011542242.1:n.1902+1127_1902+1139delinsGAGAAGGGGAGGA
XM_017029712.2:c.1569+4992_1569+5004delinsGAGAAGGGGAGGA XP_016885201.1:n.1569+4992_1569+5004delinsGAGAAGGGGAGGA
NM_001367245.1:c.1902+1127_1902+1139delinsGAGAAGGGGAGGA NP_001354174.1:n.1902+1127_1902+1139delinsGAGAAGGGGAGGA
NM_001367246.1:c.1719+1127_1719+1139delinsGAGAAGGGGAGGA NP_001354175.1:n.1719+1127_1719+1139delinsGAGAAGGGGAGGA
NM_001367247.1:c.1572+4992_1572+5004delinsGAGAAGGGGAGGA NP_001354176.1:n.1572+4992_1572+5004delinsGAGAAGGGGAGGA
NM_001367248.1:c.1602+4992_1602+5004delinsGAGAAGGGGAGGA NP_001354177.1:n.1602+4992_1602+5004delinsGAGAAGGGGAGGA
NM_001367249.1:c.1569+4992_1569+5004delinsGAGAAGGGGAGGA NP_001354178.1:n.1569+4992_1569+5004delinsGAGAAGGGGAGGA
NM_001367250.1:c.1569+4992_1569+5004delinsGAGAAGGGGAGGA NP_001354179.1:n.1569+4992_1569+5004delinsGAGAAGGGGAGGA
NM_001367251.1:c.1386+4992_1386+5004delinsGAGAAGGGGAGGA NP_001354180.1:n.1386+4992_1386+5004delinsGAGAAGGGGAGGA
NR_159803.1:n.2263+1127_2263+1139delinsGAGAAGGGGAGGA
NR_159804.1:n.1648+4992_1648+5004delinsGAGAAGGGGAGGA
NR_159805.1:n.1714+4992_1714+5004delinsGAGAAGGGGAGGA
NR_159806.1:n.1866+1127_1866+1139delinsGAGAAGGGGAGGA
NR_159807.1:n.1622+4992_1622+5004delinsGAGAAGGGGAGGA
NR_159808.1:n.1826+4992_1826+5004delinsGAGAAGGGGAGGA
NM_000328.3:c.1905+1127_1905+1139delinsGAGAAGGGGAGGA NP_000319.1:n.1905+1127_1905+1139delinsGAGAAGGGGAGGA
NM_001034853.2:c.3032_3044delinsGAGAAGGGGAGGA MANE Select NP_001030025.1:p.Gly1011=