Canonical Allele Identifier: CA645509417
Community Standard Title: NM_001034853.2(RPGR):c.2236_2237del (p.Glu746ArgfsTer23)
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286765_38286766del , CM000685.2:g.38286765_38286766del GRCh38
NC_000023.10:g.38146018_38146019del , CM000685.1:g.38146018_38146019del GRCh37
NC_000023.9:g.38030962_38030963del NCBI36
NG_009553.1:g.45773_45774del

Transcript Alleles

HGVS Amino-acid Change
NM_001034853.2:c.2236_2237del MANE Select NP_001030025.1:p.Glu746ArgfsTer23
ENST00000645032.1:c.2236_2237del MANE Select ENSP00000495537.1:p.Glu746ArgfsTer23
NM_000328.2:c.1905+331_1905+332del NP_000319.1:n.1905+331_1905+332del
NM_000328.3:c.1905+331_1905+332del NP_000319.1:n.1905+331_1905+332del
NM_001034853.1:c.2236_2237del NP_001030025.1:p.Glu746ArgfsTer23
NM_001367245.1:c.1902+331_1902+332del NP_001354174.1:n.1902+331_1902+332del
NM_001367246.1:c.1719+331_1719+332del NP_001354175.1:n.1719+331_1719+332del
NM_001367247.1:c.1572+4196_1572+4197del NP_001354176.1:n.1572+4196_1572+4197del
NM_001367248.1:c.1602+4196_1602+4197del NP_001354177.1:n.1602+4196_1602+4197del
NM_001367249.1:c.1569+4196_1569+4197del NP_001354178.1:n.1569+4196_1569+4197del
NM_001367250.1:c.1569+4196_1569+4197del NP_001354179.1:n.1569+4196_1569+4197del
NM_001367251.1:c.1386+4196_1386+4197del NP_001354180.1:n.1386+4196_1386+4197del
NR_159803.1:n.2263+331_2263+332del
NR_159804.1:n.1648+4196_1648+4197del
NR_159805.1:n.1714+4196_1714+4197del
NR_159806.1:n.1866+331_1866+332del
NR_159807.1:n.1622+4196_1622+4197del
NR_159808.1:n.1826+4196_1826+4197del
ENST00000318842.11:c.1905+331_1905+332del ENSP00000322219.6:n.1905+331_1905+332del
ENST00000339363.7:c.2520+331_2520+332del ENSP00000343671.3:n.2520+331_2520+332del
ENST00000378505.6:c.2236_2237del ENSP00000367766.2:p.Glu746ArgfsTer23
ENST00000465127.1:c.172-379356_172-379355del ENSP00000417050.1:n.172-379356_172-379355del
ENST00000474584.5:c.*37+4196_*37+4197del ENSP00000418926.1:n.*37+4196_*37+4197del
ENST00000482855.5:c.1905+331_1905+332del ENSP00000419276.1:n.1905+331_1905+332del
ENST00000494707.5:c.139+4196_139+4197del
ENST00000494707.6:c.953+1102_953+1103del
ENST00000642170.1:n.1826+4196_1826+4197del
ENST00000642395.2:c.1905+331_1905+332del ENSP00000493468.2:n.1905+331_1905+332del
ENST00000642739.1:c.1572+4196_1572+4197del ENSP00000493596.1:n.1572+4196_1572+4197del
ENST00000644238.1:c.1386+4196_1386+4197del ENSP00000496728.1:n.1386+4196_1386+4197del
ENST00000644337.1:c.1719+331_1719+332del ENSP00000494557.1:n.1719+331_1719+332del
ENST00000645124.1:c.*101+331_*101+332del ENSP00000496446.1:n.*101+331_*101+332del
ENST00000646020.1:c.*594+331_*594+332del ENSP00000494745.1:n.*594+331_*594+332del
XM_005272633.1:c.1572+4196_1572+4197del XP_005272690.1:n.1572+4196_1572+4197del
XM_005272633.3:c.1572+4196_1572+4197del XP_005272690.1:n.1572+4196_1572+4197del
XM_011543940.1:c.1902+331_1902+332del XP_011542242.1:n.1902+331_1902+332del
XM_011543940.3:c.1902+331_1902+332del XP_011542242.1:n.1902+331_1902+332del
XM_017029712.2:c.1569+4196_1569+4197del XP_016885201.1:n.1569+4196_1569+4197del