Canonical Allele Identifier: CA2424844086
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285657_38285658delinsAT , CM000685.2:g.38285657_38285658delinsAT GRCh38
NC_000023.10:g.38144910_38144911delinsAT , CM000685.1:g.38144910_38144911delinsAT GRCh37
NC_000023.9:g.38029854_38029855delinsAT NCBI36
NG_009553.1:g.46878_46879delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+2207_953+2208delinsAT
ENST00000642170.1:n.1826+5301_1826+5302delinsAT
ENST00000642395.2:c.1905+1436_1905+1437delinsAT ENSP00000493468.2:n.1905+1436_1905+1437delinsAT
ENST00000642739.1:c.1572+5301_1572+5302delinsAT ENSP00000493596.1:n.1572+5301_1572+5302delinsAT
ENST00000644238.1:c.1386+5301_1386+5302delinsAT ENSP00000496728.1:n.1386+5301_1386+5302delinsAT
ENST00000644337.1:c.1719+1436_1719+1437delinsAT ENSP00000494557.1:n.1719+1436_1719+1437delinsAT
ENST00000645032.1:c.3341_3342delinsAT MANE Select ENSP00000495537.1:p.Asn1114=
ENST00000645124.1:c.*101+1436_*101+1437delinsAT ENSP00000496446.1:n.*101+1436_*101+1437delinsAT
ENST00000646020.1:c.*594+1436_*594+1437delinsAT ENSP00000494745.1:n.*594+1436_*594+1437delinsAT
ENST00000318842.11:c.1905+1436_1905+1437delinsAT ENSP00000322219.6:n.1905+1436_1905+1437delinsAT
ENST00000339363.7:c.2520+1436_2520+1437delinsAT ENSP00000343671.3:n.2520+1436_2520+1437delinsAT
ENST00000378505.6:c.3341_3342delinsAT ENSP00000367766.2:p.Asn1114=
ENST00000465127.1:c.172-380464_172-380463delinsAT ENSP00000417050.1:n.172-380464_172-380463delinsAT
ENST00000474584.5:c.*37+5301_*37+5302delinsAT ENSP00000418926.1:n.*37+5301_*37+5302delinsAT
ENST00000482855.5:c.1905+1436_1905+1437delinsAT ENSP00000419276.1:n.1905+1436_1905+1437delinsAT
ENST00000494707.5:c.139+5301_139+5302delinsAT
NM_000328.2:c.1905+1436_1905+1437delinsAT NP_000319.1:n.1905+1436_1905+1437delinsAT
NM_001034853.1:c.3341_3342delinsAT NP_001030025.1:p.Asn1114=
XM_005272633.1:c.1572+5301_1572+5302delinsAT XP_005272690.1:n.1572+5301_1572+5302delinsAT
XM_011543940.1:c.1902+1436_1902+1437delinsAT XP_011542242.1:n.1902+1436_1902+1437delinsAT
XM_005272633.3:c.1572+5301_1572+5302delinsAT XP_005272690.1:n.1572+5301_1572+5302delinsAT
XM_011543940.3:c.1902+1436_1902+1437delinsAT XP_011542242.1:n.1902+1436_1902+1437delinsAT
XM_017029712.2:c.1569+5301_1569+5302delinsAT XP_016885201.1:n.1569+5301_1569+5302delinsAT
NM_001367245.1:c.1902+1436_1902+1437delinsAT NP_001354174.1:n.1902+1436_1902+1437delinsAT
NM_001367246.1:c.1719+1436_1719+1437delinsAT NP_001354175.1:n.1719+1436_1719+1437delinsAT
NM_001367247.1:c.1572+5301_1572+5302delinsAT NP_001354176.1:n.1572+5301_1572+5302delinsAT
NM_001367248.1:c.1602+5301_1602+5302delinsAT NP_001354177.1:n.1602+5301_1602+5302delinsAT
NM_001367249.1:c.1569+5301_1569+5302delinsAT NP_001354178.1:n.1569+5301_1569+5302delinsAT
NM_001367250.1:c.1569+5301_1569+5302delinsAT NP_001354179.1:n.1569+5301_1569+5302delinsAT
NM_001367251.1:c.1386+5301_1386+5302delinsAT NP_001354180.1:n.1386+5301_1386+5302delinsAT
NR_159803.1:n.2263+1436_2263+1437delinsAT
NR_159804.1:n.1648+5301_1648+5302delinsAT
NR_159805.1:n.1714+5301_1714+5302delinsAT
NR_159806.1:n.1866+1436_1866+1437delinsAT
NR_159807.1:n.1622+5301_1622+5302delinsAT
NR_159808.1:n.1826+5301_1826+5302delinsAT
NM_000328.3:c.1905+1436_1905+1437delinsAT NP_000319.1:n.1905+1436_1905+1437delinsAT
NM_001034853.2:c.3341_3342delinsAT MANE Select NP_001030025.1:p.Asn1114=