Canonical Allele Identifier: CA2424844587
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286313_38286314delinsCT , CM000685.2:g.38286313_38286314delinsCT GRCh38
NC_000023.10:g.38145566_38145567delinsCT , CM000685.1:g.38145566_38145567delinsCT GRCh37
NC_000023.9:g.38030510_38030511delinsCT NCBI36
NG_009553.1:g.46222_46223delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1551_953+1552delinsAG
ENST00000642170.1:n.1826+4645_1826+4646delinsAG
ENST00000642395.2:c.1905+780_1905+781delinsAG ENSP00000493468.2:n.1905+780_1905+781delinsAG
ENST00000642739.1:c.1572+4645_1572+4646delinsAG ENSP00000493596.1:n.1572+4645_1572+4646delinsAG
ENST00000644238.1:c.1386+4645_1386+4646delinsAG ENSP00000496728.1:n.1386+4645_1386+4646delinsAG
ENST00000644337.1:c.1719+780_1719+781delinsAG ENSP00000494557.1:n.1719+780_1719+781delinsAG
ENST00000645032.1:c.2685_2686delinsAG MANE Select ENSP00000495537.1:p.Gly895=
ENST00000645124.1:c.*101+780_*101+781delinsAG ENSP00000496446.1:n.*101+780_*101+781delinsAG
ENST00000646020.1:c.*594+780_*594+781delinsAG ENSP00000494745.1:n.*594+780_*594+781delinsAG
ENST00000318842.11:c.1905+780_1905+781delinsAG ENSP00000322219.6:n.1905+780_1905+781delinsAG
ENST00000339363.7:c.2520+780_2520+781delinsAG ENSP00000343671.3:n.2520+780_2520+781delinsAG
ENST00000378505.6:c.2685_2686delinsAG ENSP00000367766.2:p.Gly895=
ENST00000465127.1:c.172-379808_172-379807delinsCT ENSP00000417050.1:n.172-379808_172-379807delinsCT
ENST00000474584.5:c.*37+4645_*37+4646delinsAG ENSP00000418926.1:n.*37+4645_*37+4646delinsAG
ENST00000482855.5:c.1905+780_1905+781delinsAG ENSP00000419276.1:n.1905+780_1905+781delinsAG
ENST00000494707.5:c.139+4645_139+4646delinsAG
NM_000328.2:c.1905+780_1905+781delinsAG NP_000319.1:n.1905+780_1905+781delinsAG
NM_001034853.1:c.2685_2686delinsAG NP_001030025.1:p.Gly895=
XM_005272633.1:c.1572+4645_1572+4646delinsAG XP_005272690.1:n.1572+4645_1572+4646delinsAG
XM_011543940.1:c.1902+780_1902+781delinsAG XP_011542242.1:n.1902+780_1902+781delinsAG
XM_005272633.3:c.1572+4645_1572+4646delinsAG XP_005272690.1:n.1572+4645_1572+4646delinsAG
XM_011543940.3:c.1902+780_1902+781delinsAG XP_011542242.1:n.1902+780_1902+781delinsAG
XM_017029712.2:c.1569+4645_1569+4646delinsAG XP_016885201.1:n.1569+4645_1569+4646delinsAG
NM_001367245.1:c.1902+780_1902+781delinsAG NP_001354174.1:n.1902+780_1902+781delinsAG
NM_001367246.1:c.1719+780_1719+781delinsAG NP_001354175.1:n.1719+780_1719+781delinsAG
NM_001367247.1:c.1572+4645_1572+4646delinsAG NP_001354176.1:n.1572+4645_1572+4646delinsAG
NM_001367248.1:c.1602+4645_1602+4646delinsAG NP_001354177.1:n.1602+4645_1602+4646delinsAG
NM_001367249.1:c.1569+4645_1569+4646delinsAG NP_001354178.1:n.1569+4645_1569+4646delinsAG
NM_001367250.1:c.1569+4645_1569+4646delinsAG NP_001354179.1:n.1569+4645_1569+4646delinsAG
NM_001367251.1:c.1386+4645_1386+4646delinsAG NP_001354180.1:n.1386+4645_1386+4646delinsAG
NR_159803.1:n.2263+780_2263+781delinsAG
NR_159804.1:n.1648+4645_1648+4646delinsAG
NR_159805.1:n.1714+4645_1714+4646delinsAG
NR_159806.1:n.1866+780_1866+781delinsAG
NR_159807.1:n.1622+4645_1622+4646delinsAG
NR_159808.1:n.1826+4645_1826+4646delinsAG
NM_000328.3:c.1905+780_1905+781delinsAG NP_000319.1:n.1905+780_1905+781delinsAG
NM_001034853.2:c.2685_2686delinsAG MANE Select NP_001030025.1:p.Gly895=