Canonical Allele Identifier: CA10385224
Gene: RPGR HGNC NCBI

Linked Data

dbSNP Id: rs773924963

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286003_38286004insTTTCTTCTTCCCCTTCCTCTCCTTCTTCCTCCC , CM000685.2:g.38286003_38286004insTTTCTTCTTCCCCTTCCTCTCCTTCTTCCTCCC GRCh38
NC_000023.10:g.38145256_38145257insTTTCTTCTTCCCCTTCCTCTCCTTCTTCCTCCC , CM000685.1:g.38145256_38145257insTTTCTTCTTCCCCTTCCTCTCCTTCTTCCTCCC GRCh37
NC_000023.9:g.38030200_38030201insTTTCTTCTTCCCCTTCCTCTCCTTCTTCCTCCC NCBI36
NG_009553.1:g.46550_46551insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1879_953+1880insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
ENST00000642170.1:n.1826+4973_1826+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
ENST00000642395.2:c.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000493468.2:n.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000642739.1:c.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000493596.1:n.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGA...
ENST00000644238.1:c.1386+4973_1386+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000496728.1:n.1386+4973_1386+4974insAAGGGGAAGAAGAAAGGGA...
ENST00000644337.1:c.1719+1108_1719+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000494557.1:n.1719+1108_1719+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000645032.1:c.3013_3014insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG MANE Select ENSP00000495537.1:p.Glu1004_Gly1005insGluGlyGluGluGluArgGluGl...
ENST00000645124.1:c.*101+1108_*101+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000496446.1:n.*101+1108_*101+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000646020.1:c.*594+1108_*594+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000494745.1:n.*594+1108_*594+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000318842.11:c.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000322219.6:n.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000339363.7:c.2520+1108_2520+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000343671.3:n.2520+1108_2520+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000378505.6:c.3013_3014insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000367766.2:p.Glu1004_Gly1005insGluGlyGluGluGluArgGluGl...
ENST00000465127.1:c.172-380118_172-380117insTTTCTTCTTCCCCTTCCTCTCCTTCTTCCTCCC ENSP00000417050.1:n.172-380118_172-380117insTTTCTTCTTCCCCTTCC...
ENST00000474584.5:c.*37+4973_*37+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000418926.1:n.*37+4973_*37+4974insAAGGGGAAGAAGAAAGGGAGG...
ENST00000482855.5:c.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG ENSP00000419276.1:n.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGA...
ENST00000494707.5:c.139+4973_139+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NM_000328.2:c.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_000319.1:n.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGA...
NM_001034853.1:c.3013_3014insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001030025.1:p.Glu1004_Gly1005insGluGlyGluGluGluArgGluGluGl...
XM_005272633.1:c.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG XP_005272690.1:n.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGA...
XM_011543940.1:c.1902+1108_1902+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG XP_011542242.1:n.1902+1108_1902+1109insAAGGGGAAGAAGAAAGGGAGGA...
XM_005272633.3:c.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG XP_005272690.1:n.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGA...
XM_011543940.3:c.1902+1108_1902+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG XP_011542242.1:n.1902+1108_1902+1109insAAGGGGAAGAAGAAAGGGAGGA...
XM_017029712.2:c.1569+4973_1569+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG XP_016885201.1:n.1569+4973_1569+4974insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367245.1:c.1902+1108_1902+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354174.1:n.1902+1108_1902+1109insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367246.1:c.1719+1108_1719+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354175.1:n.1719+1108_1719+1109insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367247.1:c.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354176.1:n.1572+4973_1572+4974insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367248.1:c.1602+4973_1602+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354177.1:n.1602+4973_1602+4974insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367249.1:c.1569+4973_1569+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354178.1:n.1569+4973_1569+4974insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367250.1:c.1569+4973_1569+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354179.1:n.1569+4973_1569+4974insAAGGGGAAGAAGAAAGGGAGGA...
NM_001367251.1:c.1386+4973_1386+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_001354180.1:n.1386+4973_1386+4974insAAGGGGAAGAAGAAAGGGAGGA...
NR_159803.1:n.2263+1108_2263+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NR_159804.1:n.1648+4973_1648+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NR_159805.1:n.1714+4973_1714+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NR_159806.1:n.1866+1108_1866+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NR_159807.1:n.1622+4973_1622+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NR_159808.1:n.1826+4973_1826+4974insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG
NM_000328.3:c.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG NP_000319.1:n.1905+1108_1905+1109insAAGGGGAAGAAGAAAGGGAGGAAGA...
NM_001034853.2:c.3013_3014insAAGGGGAAGAAGAAAGGGAGGAAGAAGGAGAGG MANE Select NP_001030025.1:p.Glu1004_Gly1005insGluGlyGluGluGluArgGluGluGl...