Canonical Allele Identifier: CA2820486755
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286484_38286485insTCCTTC , CM000685.2:g.38286484_38286485insTCCTTC GRCh38
NC_000023.10:g.38145737_38145738insTCCTTC , CM000685.1:g.38145737_38145738insTCCTTC GRCh37
NC_000023.9:g.38030681_38030682insTCCTTC NCBI36
NG_009553.1:g.46056_46057insAGAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1385_953+1386insAGAAGG
ENST00000642170.1:n.1826+4479_1826+4480insAGAAGG
ENST00000642395.2:c.1905+614_1905+615insAGAAGG ENSP00000493468.2:n.1905+614_1905+615insAGAAGG
ENST00000642739.1:c.1572+4479_1572+4480insAGAAGG ENSP00000493596.1:n.1572+4479_1572+4480insAGAAGG
ENST00000644238.1:c.1386+4479_1386+4480insAGAAGG ENSP00000496728.1:n.1386+4479_1386+4480insAGAAGG
ENST00000644337.1:c.1719+614_1719+615insAGAAGG ENSP00000494557.1:n.1719+614_1719+615insAGAAGG
ENST00000645032.1:c.2519_2520insAGAAGG MANE Select ENSP00000495537.1:p.Gly840_Glu841insGluGly
ENST00000645124.1:c.*101+614_*101+615insAGAAGG ENSP00000496446.1:n.*101+614_*101+615insAGAAGG
ENST00000646020.1:c.*594+614_*594+615insAGAAGG ENSP00000494745.1:n.*594+614_*594+615insAGAAGG
ENST00000318842.11:c.1905+614_1905+615insAGAAGG ENSP00000322219.6:n.1905+614_1905+615insAGAAGG
ENST00000339363.7:c.2520+614_2520+615insAGAAGG ENSP00000343671.3:n.2520+614_2520+615insAGAAGG
ENST00000378505.6:c.2519_2520insAGAAGG ENSP00000367766.2:p.Gly840_Glu841insGluGly
ENST00000465127.1:c.172-379637_172-379636insTCCTTC ENSP00000417050.1:n.172-379637_172-379636insTCCTTC
ENST00000474584.5:c.*37+4479_*37+4480insAGAAGG ENSP00000418926.1:n.*37+4479_*37+4480insAGAAGG
ENST00000482855.5:c.1905+614_1905+615insAGAAGG ENSP00000419276.1:n.1905+614_1905+615insAGAAGG
ENST00000494707.5:c.139+4479_139+4480insAGAAGG
NM_000328.2:c.1905+614_1905+615insAGAAGG NP_000319.1:n.1905+614_1905+615insAGAAGG
NM_001034853.1:c.2519_2520insAGAAGG NP_001030025.1:p.Gly840_Glu841insGluGly
XM_005272633.1:c.1572+4479_1572+4480insAGAAGG XP_005272690.1:n.1572+4479_1572+4480insAGAAGG
XM_011543940.1:c.1902+614_1902+615insAGAAGG XP_011542242.1:n.1902+614_1902+615insAGAAGG
XM_005272633.3:c.1572+4479_1572+4480insAGAAGG XP_005272690.1:n.1572+4479_1572+4480insAGAAGG
XM_011543940.3:c.1902+614_1902+615insAGAAGG XP_011542242.1:n.1902+614_1902+615insAGAAGG
XM_017029712.2:c.1569+4479_1569+4480insAGAAGG XP_016885201.1:n.1569+4479_1569+4480insAGAAGG
NM_001367245.1:c.1902+614_1902+615insAGAAGG NP_001354174.1:n.1902+614_1902+615insAGAAGG
NM_001367246.1:c.1719+614_1719+615insAGAAGG NP_001354175.1:n.1719+614_1719+615insAGAAGG
NM_001367247.1:c.1572+4479_1572+4480insAGAAGG NP_001354176.1:n.1572+4479_1572+4480insAGAAGG
NM_001367248.1:c.1602+4479_1602+4480insAGAAGG NP_001354177.1:n.1602+4479_1602+4480insAGAAGG
NM_001367249.1:c.1569+4479_1569+4480insAGAAGG NP_001354178.1:n.1569+4479_1569+4480insAGAAGG
NM_001367250.1:c.1569+4479_1569+4480insAGAAGG NP_001354179.1:n.1569+4479_1569+4480insAGAAGG
NM_001367251.1:c.1386+4479_1386+4480insAGAAGG NP_001354180.1:n.1386+4479_1386+4480insAGAAGG
NR_159803.1:n.2263+614_2263+615insAGAAGG
NR_159804.1:n.1648+4479_1648+4480insAGAAGG
NR_159805.1:n.1714+4479_1714+4480insAGAAGG
NR_159806.1:n.1866+614_1866+615insAGAAGG
NR_159807.1:n.1622+4479_1622+4480insAGAAGG
NR_159808.1:n.1826+4479_1826+4480insAGAAGG
NM_000328.3:c.1905+614_1905+615insAGAAGG NP_000319.1:n.1905+614_1905+615insAGAAGG
NM_001034853.2:c.2519_2520insAGAAGG MANE Select NP_001030025.1:p.Gly840_Glu841insGluGly