Canonical Allele Identifier: CA2580100923

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1802357
• ClinVar RCV Id: RCV002465170

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286656_38286665dup , CM000685.2:g.38286656_38286665dup	GRCh38
NC_000023.10:g.38145909_38145918dup , CM000685.1:g.38145909_38145918dup	GRCh37
NC_000023.9:g.38030853_38030862dup	NCBI36
NG_009553.1:g.45873_45882dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1202_953+1211dup
ENST00000642170.1:n.1826+4296_1826+4305dup
ENST00000642395.2:c.1905+431_1905+440dup	ENSP00000493468.2:n.1905+431_1905+440dup
ENST00000642739.1:c.1572+4296_1572+4305dup	ENSP00000493596.1:n.1572+4296_1572+4305du...
ENST00000644238.1:c.1386+4296_1386+4305dup	ENSP00000496728.1:n.1386+4296_1386+4305du...
ENST00000644337.1:c.1719+431_1719+440dup	ENSP00000494557.1:n.1719+431_1719+440dup
ENST00000645032.1:c.2336_2345dup MANE Select	ENSP00000495537.1:p.Glu784SerfsTer?
ENST00000645124.1:c.*101+431_*101+440dup	ENSP00000496446.1:n.*101+431_*101+440dup
ENST00000646020.1:c.*594+431_*594+440dup	ENSP00000494745.1:n.*594+431_*594+440dup
ENST00000318842.11:c.1905+431_1905+440dup	ENSP00000322219.6:n.1905+431_1905+440dup
ENST00000339363.7:c.2520+431_2520+440dup	ENSP00000343671.3:n.2520+431_2520+440dup
ENST00000378505.6:c.2336_2345dup	ENSP00000367766.2:p.Glu784SerfsTer?
ENST00000465127.1:c.172-379465_172-379456dup	ENSP00000417050.1:n.172-379465_172-379456...
ENST00000474584.5:c.*37+4296_*37+4305dup	ENSP00000418926.1:n.*37+4296_*37+4305dup
ENST00000482855.5:c.1905+431_1905+440dup	ENSP00000419276.1:n.1905+431_1905+440dup
ENST00000494707.5:c.139+4296_139+4305dup
NM_000328.2:c.1905+431_1905+440dup	NP_000319.1:n.1905+431_1905+440dup
NM_001034853.1:c.2336_2345dup	NP_001030025.1:p.Glu784SerfsTer?
XM_005272633.1:c.1572+4296_1572+4305dup	XP_005272690.1:n.1572+4296_1572+4305dup
XM_011543940.1:c.1902+431_1902+440dup	XP_011542242.1:n.1902+431_1902+440dup
XM_005272633.3:c.1572+4296_1572+4305dup	XP_005272690.1:n.1572+4296_1572+4305dup
XM_011543940.3:c.1902+431_1902+440dup	XP_011542242.1:n.1902+431_1902+440dup
XM_017029712.2:c.1569+4296_1569+4305dup	XP_016885201.1:n.1569+4296_1569+4305dup
NM_001367245.1:c.1902+431_1902+440dup	NP_001354174.1:n.1902+431_1902+440dup
NM_001367246.1:c.1719+431_1719+440dup	NP_001354175.1:n.1719+431_1719+440dup
NM_001367247.1:c.1572+4296_1572+4305dup	NP_001354176.1:n.1572+4296_1572+4305dup
NM_001367248.1:c.1602+4296_1602+4305dup	NP_001354177.1:n.1602+4296_1602+4305dup
NM_001367249.1:c.1569+4296_1569+4305dup	NP_001354178.1:n.1569+4296_1569+4305dup
NM_001367250.1:c.1569+4296_1569+4305dup	NP_001354179.1:n.1569+4296_1569+4305dup
NM_001367251.1:c.1386+4296_1386+4305dup	NP_001354180.1:n.1386+4296_1386+4305dup
NR_159803.1:n.2263+431_2263+440dup
NR_159804.1:n.1648+4296_1648+4305dup
NR_159805.1:n.1714+4296_1714+4305dup
NR_159806.1:n.1866+431_1866+440dup
NR_159807.1:n.1622+4296_1622+4305dup
NR_159808.1:n.1826+4296_1826+4305dup
NM_000328.3:c.1905+431_1905+440dup	NP_000319.1:n.1905+431_1905+440dup
NM_001034853.2:c.2336_2345dup MANE Select	NP_001030025.1:p.Glu784SerfsTer?