Canonical Allele Identifier: CA2693438896
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286003_38286004insT , CM000685.2:g.38286003_38286004insT GRCh38
NC_000023.10:g.38145256_38145257insT , CM000685.1:g.38145256_38145257insT GRCh37
NC_000023.9:g.38030200_38030201insT NCBI36
NG_009553.1:g.46532_46533insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1861_953+1862insA
ENST00000642170.1:n.1826+4955_1826+4956insA
ENST00000642395.2:c.1905+1090_1905+1091insA ENSP00000493468.2:n.1905+1090_1905+1091insA
ENST00000642739.1:c.1572+4955_1572+4956insA ENSP00000493596.1:n.1572+4955_1572+4956insA
ENST00000644238.1:c.1386+4955_1386+4956insA ENSP00000496728.1:n.1386+4955_1386+4956insA
ENST00000644337.1:c.1719+1090_1719+1091insA ENSP00000494557.1:n.1719+1090_1719+1091insA
ENST00000645032.1:c.2995_2996insA MANE Select ENSP00000495537.1:p.Gly999GlufsTer?
ENST00000645124.1:c.*101+1090_*101+1091insA ENSP00000496446.1:n.*101+1090_*101+1091insA
ENST00000646020.1:c.*594+1090_*594+1091insA ENSP00000494745.1:n.*594+1090_*594+1091insA
ENST00000318842.11:c.1905+1090_1905+1091insA ENSP00000322219.6:n.1905+1090_1905+1091insA
ENST00000339363.7:c.2520+1090_2520+1091insA ENSP00000343671.3:n.2520+1090_2520+1091insA
ENST00000378505.6:c.2995_2996insA ENSP00000367766.2:p.Gly999GlufsTer?
ENST00000465127.1:c.172-380118_172-380117insT ENSP00000417050.1:n.172-380118_172-380117insT
ENST00000474584.5:c.*37+4955_*37+4956insA ENSP00000418926.1:n.*37+4955_*37+4956insA
ENST00000482855.5:c.1905+1090_1905+1091insA ENSP00000419276.1:n.1905+1090_1905+1091insA
ENST00000494707.5:c.139+4955_139+4956insA
NM_000328.2:c.1905+1090_1905+1091insA NP_000319.1:n.1905+1090_1905+1091insA
NM_001034853.1:c.2995_2996insA NP_001030025.1:p.Gly999GlufsTer?
XM_005272633.1:c.1572+4955_1572+4956insA XP_005272690.1:n.1572+4955_1572+4956insA
XM_011543940.1:c.1902+1090_1902+1091insA XP_011542242.1:n.1902+1090_1902+1091insA
XM_005272633.3:c.1572+4955_1572+4956insA XP_005272690.1:n.1572+4955_1572+4956insA
XM_011543940.3:c.1902+1090_1902+1091insA XP_011542242.1:n.1902+1090_1902+1091insA
XM_017029712.2:c.1569+4955_1569+4956insA XP_016885201.1:n.1569+4955_1569+4956insA
NM_001367245.1:c.1902+1090_1902+1091insA NP_001354174.1:n.1902+1090_1902+1091insA
NM_001367246.1:c.1719+1090_1719+1091insA NP_001354175.1:n.1719+1090_1719+1091insA
NM_001367247.1:c.1572+4955_1572+4956insA NP_001354176.1:n.1572+4955_1572+4956insA
NM_001367248.1:c.1602+4955_1602+4956insA NP_001354177.1:n.1602+4955_1602+4956insA
NM_001367249.1:c.1569+4955_1569+4956insA NP_001354178.1:n.1569+4955_1569+4956insA
NM_001367250.1:c.1569+4955_1569+4956insA NP_001354179.1:n.1569+4955_1569+4956insA
NM_001367251.1:c.1386+4955_1386+4956insA NP_001354180.1:n.1386+4955_1386+4956insA
NR_159803.1:n.2263+1090_2263+1091insA
NR_159804.1:n.1648+4955_1648+4956insA
NR_159805.1:n.1714+4955_1714+4956insA
NR_159806.1:n.1866+1090_1866+1091insA
NR_159807.1:n.1622+4955_1622+4956insA
NR_159808.1:n.1826+4955_1826+4956insA
NM_000328.3:c.1905+1090_1905+1091insA NP_000319.1:n.1905+1090_1905+1091insA
NM_001034853.2:c.2995_2996insA MANE Select NP_001030025.1:p.Gly999GlufsTer?