Canonical Allele Identifier: CA2424844714
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286440_38286443delinsTTCC , CM000685.2:g.38286440_38286443delinsTTCC GRCh38
NC_000023.10:g.38145693_38145696delinsTTCC , CM000685.1:g.38145693_38145696delinsTTCC GRCh37
NC_000023.9:g.38030637_38030640delinsTTCC NCBI36
NG_009553.1:g.46093_46096delinsGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1422_953+1425delinsGGAA
ENST00000642170.1:n.1826+4516_1826+4519delinsGGAA
ENST00000642395.2:c.1905+651_1905+654delinsGGAA ENSP00000493468.2:n.1905+651_1905+654delinsGGAA
ENST00000642739.1:c.1572+4516_1572+4519delinsGGAA ENSP00000493596.1:n.1572+4516_1572+4519delinsGGAA
ENST00000644238.1:c.1386+4516_1386+4519delinsGGAA ENSP00000496728.1:n.1386+4516_1386+4519delinsGGAA
ENST00000644337.1:c.1719+651_1719+654delinsGGAA ENSP00000494557.1:n.1719+651_1719+654delinsGGAA
ENST00000645032.1:c.2556_2559delinsGGAA MANE Select ENSP00000495537.1:p.Glu852=
ENST00000645124.1:c.*101+651_*101+654delinsGGAA ENSP00000496446.1:n.*101+651_*101+654delinsGGAA
ENST00000646020.1:c.*594+651_*594+654delinsGGAA ENSP00000494745.1:n.*594+651_*594+654delinsGGAA
ENST00000318842.11:c.1905+651_1905+654delinsGGAA ENSP00000322219.6:n.1905+651_1905+654delinsGGAA
ENST00000339363.7:c.2520+651_2520+654delinsGGAA ENSP00000343671.3:n.2520+651_2520+654delinsGGAA
ENST00000378505.6:c.2556_2559delinsGGAA ENSP00000367766.2:p.Glu852=
ENST00000465127.1:c.172-379681_172-379678delinsTTCC ENSP00000417050.1:n.172-379681_172-379678delinsTTCC
ENST00000474584.5:c.*37+4516_*37+4519delinsGGAA ENSP00000418926.1:n.*37+4516_*37+4519delinsGGAA
ENST00000482855.5:c.1905+651_1905+654delinsGGAA ENSP00000419276.1:n.1905+651_1905+654delinsGGAA
ENST00000494707.5:c.139+4516_139+4519delinsGGAA
NM_000328.2:c.1905+651_1905+654delinsGGAA NP_000319.1:n.1905+651_1905+654delinsGGAA
NM_001034853.1:c.2556_2559delinsGGAA NP_001030025.1:p.Glu852=
XM_005272633.1:c.1572+4516_1572+4519delinsGGAA XP_005272690.1:n.1572+4516_1572+4519delinsGGAA
XM_011543940.1:c.1902+651_1902+654delinsGGAA XP_011542242.1:n.1902+651_1902+654delinsGGAA
XM_005272633.3:c.1572+4516_1572+4519delinsGGAA XP_005272690.1:n.1572+4516_1572+4519delinsGGAA
XM_011543940.3:c.1902+651_1902+654delinsGGAA XP_011542242.1:n.1902+651_1902+654delinsGGAA
XM_017029712.2:c.1569+4516_1569+4519delinsGGAA XP_016885201.1:n.1569+4516_1569+4519delinsGGAA
NM_001367245.1:c.1902+651_1902+654delinsGGAA NP_001354174.1:n.1902+651_1902+654delinsGGAA
NM_001367246.1:c.1719+651_1719+654delinsGGAA NP_001354175.1:n.1719+651_1719+654delinsGGAA
NM_001367247.1:c.1572+4516_1572+4519delinsGGAA NP_001354176.1:n.1572+4516_1572+4519delinsGGAA
NM_001367248.1:c.1602+4516_1602+4519delinsGGAA NP_001354177.1:n.1602+4516_1602+4519delinsGGAA
NM_001367249.1:c.1569+4516_1569+4519delinsGGAA NP_001354178.1:n.1569+4516_1569+4519delinsGGAA
NM_001367250.1:c.1569+4516_1569+4519delinsGGAA NP_001354179.1:n.1569+4516_1569+4519delinsGGAA
NM_001367251.1:c.1386+4516_1386+4519delinsGGAA NP_001354180.1:n.1386+4516_1386+4519delinsGGAA
NR_159803.1:n.2263+651_2263+654delinsGGAA
NR_159804.1:n.1648+4516_1648+4519delinsGGAA
NR_159805.1:n.1714+4516_1714+4519delinsGGAA
NR_159806.1:n.1866+651_1866+654delinsGGAA
NR_159807.1:n.1622+4516_1622+4519delinsGGAA
NR_159808.1:n.1826+4516_1826+4519delinsGGAA
NM_000328.3:c.1905+651_1905+654delinsGGAA NP_000319.1:n.1905+651_1905+654delinsGGAA
NM_001034853.2:c.2556_2559delinsGGAA MANE Select NP_001030025.1:p.Glu852=