Canonical Allele Identifier: CA2820486450
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285760_38285761insAC , CM000685.2:g.38285760_38285761insAC GRCh38
NC_000023.10:g.38145013_38145014insAC , CM000685.1:g.38145013_38145014insAC GRCh37
NC_000023.9:g.38029957_38029958insAC NCBI36
NG_009553.1:g.46775_46776insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+2104_953+2105insGT
ENST00000642170.1:n.1826+5198_1826+5199insGT
ENST00000642395.2:c.1905+1333_1905+1334insGT ENSP00000493468.2:n.1905+1333_1905+1334insGT
ENST00000642739.1:c.1572+5198_1572+5199insGT ENSP00000493596.1:n.1572+5198_1572+5199insGT
ENST00000644238.1:c.1386+5198_1386+5199insGT ENSP00000496728.1:n.1386+5198_1386+5199insGT
ENST00000644337.1:c.1719+1333_1719+1334insGT ENSP00000494557.1:n.1719+1333_1719+1334insGT
ENST00000645032.1:c.3238_3239insGT MANE Select ENSP00000495537.1:p.Gln1080ArgfsTer10
ENST00000645124.1:c.*101+1333_*101+1334insGT ENSP00000496446.1:n.*101+1333_*101+1334insGT
ENST00000646020.1:c.*594+1333_*594+1334insGT ENSP00000494745.1:n.*594+1333_*594+1334insGT
ENST00000318842.11:c.1905+1333_1905+1334insGT ENSP00000322219.6:n.1905+1333_1905+1334insGT
ENST00000339363.7:c.2520+1333_2520+1334insGT ENSP00000343671.3:n.2520+1333_2520+1334insGT
ENST00000378505.6:c.3238_3239insGT ENSP00000367766.2:p.Gln1080ArgfsTer10
ENST00000465127.1:c.172-380361_172-380360insAC ENSP00000417050.1:n.172-380361_172-380360insAC
ENST00000474584.5:c.*37+5198_*37+5199insGT ENSP00000418926.1:n.*37+5198_*37+5199insGT
ENST00000482855.5:c.1905+1333_1905+1334insGT ENSP00000419276.1:n.1905+1333_1905+1334insGT
ENST00000494707.5:c.139+5198_139+5199insGT
NM_000328.2:c.1905+1333_1905+1334insGT NP_000319.1:n.1905+1333_1905+1334insGT
NM_001034853.1:c.3238_3239insGT NP_001030025.1:p.Gln1080ArgfsTer10
XM_005272633.1:c.1572+5198_1572+5199insGT XP_005272690.1:n.1572+5198_1572+5199insGT
XM_011543940.1:c.1902+1333_1902+1334insGT XP_011542242.1:n.1902+1333_1902+1334insGT
XM_005272633.3:c.1572+5198_1572+5199insGT XP_005272690.1:n.1572+5198_1572+5199insGT
XM_011543940.3:c.1902+1333_1902+1334insGT XP_011542242.1:n.1902+1333_1902+1334insGT
XM_017029712.2:c.1569+5198_1569+5199insGT XP_016885201.1:n.1569+5198_1569+5199insGT
NM_001367245.1:c.1902+1333_1902+1334insGT NP_001354174.1:n.1902+1333_1902+1334insGT
NM_001367246.1:c.1719+1333_1719+1334insGT NP_001354175.1:n.1719+1333_1719+1334insGT
NM_001367247.1:c.1572+5198_1572+5199insGT NP_001354176.1:n.1572+5198_1572+5199insGT
NM_001367248.1:c.1602+5198_1602+5199insGT NP_001354177.1:n.1602+5198_1602+5199insGT
NM_001367249.1:c.1569+5198_1569+5199insGT NP_001354178.1:n.1569+5198_1569+5199insGT
NM_001367250.1:c.1569+5198_1569+5199insGT NP_001354179.1:n.1569+5198_1569+5199insGT
NM_001367251.1:c.1386+5198_1386+5199insGT NP_001354180.1:n.1386+5198_1386+5199insGT
NR_159803.1:n.2263+1333_2263+1334insGT
NR_159804.1:n.1648+5198_1648+5199insGT
NR_159805.1:n.1714+5198_1714+5199insGT
NR_159806.1:n.1866+1333_1866+1334insGT
NR_159807.1:n.1622+5198_1622+5199insGT
NR_159808.1:n.1826+5198_1826+5199insGT
NM_000328.3:c.1905+1333_1905+1334insGT NP_000319.1:n.1905+1333_1905+1334insGT
NM_001034853.2:c.3238_3239insGT MANE Select NP_001030025.1:p.Gln1080ArgfsTer10