Canonical Allele Identifier: CA2424844376
Gene: RPGR HGNC NCBI

Linked Data

dbSNP Id: rs2067139658

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286076_38286077insTTC , CM000685.2:g.38286076_38286077insTTC GRCh38
NC_000023.10:g.38145329_38145330insTTC , CM000685.1:g.38145329_38145330insTTC GRCh37
NC_000023.9:g.38030273_38030274insTTC NCBI36
NG_009553.1:g.46461_46462insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1790_953+1791insAGA
ENST00000642170.1:n.1826+4884_1826+4885insAGA
ENST00000642395.2:c.1905+1019_1905+1020insAGA ENSP00000493468.2:n.1905+1019_1905+1020insAGA
ENST00000642739.1:c.1572+4884_1572+4885insAGA ENSP00000493596.1:n.1572+4884_1572+4885insAGA
ENST00000644238.1:c.1386+4884_1386+4885insAGA ENSP00000496728.1:n.1386+4884_1386+4885insAGA
ENST00000644337.1:c.1719+1019_1719+1020insAGA ENSP00000494557.1:n.1719+1019_1719+1020insAGA
ENST00000645032.1:c.2924_2925insAGA MANE Select ENSP00000495537.1:p.Glu975_Glu976insGlu
ENST00000645124.1:c.*101+1019_*101+1020insAGA ENSP00000496446.1:n.*101+1019_*101+1020insAGA
ENST00000646020.1:c.*594+1019_*594+1020insAGA ENSP00000494745.1:n.*594+1019_*594+1020insAGA
ENST00000318842.11:c.1905+1019_1905+1020insAGA ENSP00000322219.6:n.1905+1019_1905+1020insAGA
ENST00000339363.7:c.2520+1019_2520+1020insAGA ENSP00000343671.3:n.2520+1019_2520+1020insAGA
ENST00000378505.6:c.2924_2925insAGA ENSP00000367766.2:p.Glu975_Glu976insGlu
ENST00000465127.1:c.172-380045_172-380044insTTC ENSP00000417050.1:n.172-380045_172-380044insTTC
ENST00000474584.5:c.*37+4884_*37+4885insAGA ENSP00000418926.1:n.*37+4884_*37+4885insAGA
ENST00000482855.5:c.1905+1019_1905+1020insAGA ENSP00000419276.1:n.1905+1019_1905+1020insAGA
ENST00000494707.5:c.139+4884_139+4885insAGA
NM_000328.2:c.1905+1019_1905+1020insAGA NP_000319.1:n.1905+1019_1905+1020insAGA
NM_001034853.1:c.2924_2925insAGA NP_001030025.1:p.Glu975_Glu976insGlu
XM_005272633.1:c.1572+4884_1572+4885insAGA XP_005272690.1:n.1572+4884_1572+4885insAGA
XM_011543940.1:c.1902+1019_1902+1020insAGA XP_011542242.1:n.1902+1019_1902+1020insAGA
XM_005272633.3:c.1572+4884_1572+4885insAGA XP_005272690.1:n.1572+4884_1572+4885insAGA
XM_011543940.3:c.1902+1019_1902+1020insAGA XP_011542242.1:n.1902+1019_1902+1020insAGA
XM_017029712.2:c.1569+4884_1569+4885insAGA XP_016885201.1:n.1569+4884_1569+4885insAGA
NM_001367245.1:c.1902+1019_1902+1020insAGA NP_001354174.1:n.1902+1019_1902+1020insAGA
NM_001367246.1:c.1719+1019_1719+1020insAGA NP_001354175.1:n.1719+1019_1719+1020insAGA
NM_001367247.1:c.1572+4884_1572+4885insAGA NP_001354176.1:n.1572+4884_1572+4885insAGA
NM_001367248.1:c.1602+4884_1602+4885insAGA NP_001354177.1:n.1602+4884_1602+4885insAGA
NM_001367249.1:c.1569+4884_1569+4885insAGA NP_001354178.1:n.1569+4884_1569+4885insAGA
NM_001367250.1:c.1569+4884_1569+4885insAGA NP_001354179.1:n.1569+4884_1569+4885insAGA
NM_001367251.1:c.1386+4884_1386+4885insAGA NP_001354180.1:n.1386+4884_1386+4885insAGA
NR_159803.1:n.2263+1019_2263+1020insAGA
NR_159804.1:n.1648+4884_1648+4885insAGA
NR_159805.1:n.1714+4884_1714+4885insAGA
NR_159806.1:n.1866+1019_1866+1020insAGA
NR_159807.1:n.1622+4884_1622+4885insAGA
NR_159808.1:n.1826+4884_1826+4885insAGA
NM_000328.3:c.1905+1019_1905+1020insAGA NP_000319.1:n.1905+1019_1905+1020insAGA
NM_001034853.2:c.2924_2925insAGA MANE Select NP_001030025.1:p.Glu975_Glu976insGlu