Canonical Allele Identifier: CA2693438944
Community Standard Title: NM_001034853.2(RPGR):c.2904_2906del (p.Glu969del)
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286095_38286097del , CM000685.2:g.38286095_38286097del GRCh38
NC_000023.10:g.38145348_38145350del , CM000685.1:g.38145348_38145350del GRCh37
NC_000023.9:g.38030292_38030294del NCBI36
NG_009553.1:g.46441_46443del

Transcript Alleles

HGVS Amino-acid Change
NM_001034853.2:c.2904_2906del MANE Select NP_001030025.1:p.Glu969del
ENST00000645032.1:c.2904_2906del MANE Select ENSP00000495537.1:p.Glu969del
NM_000328.2:c.1905+999_1905+1001del NP_000319.1:n.1905+999_1905+1001del
NM_000328.3:c.1905+999_1905+1001del NP_000319.1:n.1905+999_1905+1001del
NM_001034853.1:c.2904_2906del NP_001030025.1:p.Glu969del
NM_001367245.1:c.1902+999_1902+1001del NP_001354174.1:n.1902+999_1902+1001del
NM_001367246.1:c.1719+999_1719+1001del NP_001354175.1:n.1719+999_1719+1001del
NM_001367247.1:c.1572+4864_1572+4866del NP_001354176.1:n.1572+4864_1572+4866del
NM_001367248.1:c.1602+4864_1602+4866del NP_001354177.1:n.1602+4864_1602+4866del
NM_001367249.1:c.1569+4864_1569+4866del NP_001354178.1:n.1569+4864_1569+4866del
NM_001367250.1:c.1569+4864_1569+4866del NP_001354179.1:n.1569+4864_1569+4866del
NM_001367251.1:c.1386+4864_1386+4866del NP_001354180.1:n.1386+4864_1386+4866del
NR_159803.1:n.2263+999_2263+1001del
NR_159804.1:n.1648+4864_1648+4866del
NR_159805.1:n.1714+4864_1714+4866del
NR_159806.1:n.1866+999_1866+1001del
NR_159807.1:n.1622+4864_1622+4866del
NR_159808.1:n.1826+4864_1826+4866del
ENST00000318842.11:c.1905+999_1905+1001del ENSP00000322219.6:n.1905+999_1905+1001del
ENST00000339363.7:c.2520+999_2520+1001del ENSP00000343671.3:n.2520+999_2520+1001del
ENST00000378505.6:c.2904_2906del ENSP00000367766.2:p.Glu969del
ENST00000465127.1:c.172-380026_172-380024del ENSP00000417050.1:n.172-380026_172-380024del
ENST00000474584.5:c.*37+4864_*37+4866del ENSP00000418926.1:n.*37+4864_*37+4866del
ENST00000482855.5:c.1905+999_1905+1001del ENSP00000419276.1:n.1905+999_1905+1001del
ENST00000494707.5:c.139+4864_139+4866del
ENST00000494707.6:c.953+1770_953+1772del
ENST00000642170.1:n.1826+4864_1826+4866del
ENST00000642395.2:c.1905+999_1905+1001del ENSP00000493468.2:n.1905+999_1905+1001del
ENST00000642739.1:c.1572+4864_1572+4866del ENSP00000493596.1:n.1572+4864_1572+4866del
ENST00000644238.1:c.1386+4864_1386+4866del ENSP00000496728.1:n.1386+4864_1386+4866del
ENST00000644337.1:c.1719+999_1719+1001del ENSP00000494557.1:n.1719+999_1719+1001del
ENST00000645124.1:c.*101+999_*101+1001del ENSP00000496446.1:n.*101+999_*101+1001del
ENST00000646020.1:c.*594+999_*594+1001del ENSP00000494745.1:n.*594+999_*594+1001del
XM_005272633.1:c.1572+4864_1572+4866del XP_005272690.1:n.1572+4864_1572+4866del
XM_005272633.3:c.1572+4864_1572+4866del XP_005272690.1:n.1572+4864_1572+4866del
XM_011543940.1:c.1902+999_1902+1001del XP_011542242.1:n.1902+999_1902+1001del
XM_011543940.3:c.1902+999_1902+1001del XP_011542242.1:n.1902+999_1902+1001del
XM_017029712.2:c.1569+4864_1569+4866del XP_016885201.1:n.1569+4864_1569+4866del