Canonical Allele Identifier: CA2580100894

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2118517
• ClinVar RCV Id: RCV003053671

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286396_38286413del , CM000685.2:g.38286396_38286413del	GRCh38
NC_000023.10:g.38145649_38145666del , CM000685.1:g.38145649_38145666del	GRCh37
NC_000023.9:g.38030593_38030610del	NCBI36
NG_009553.1:g.46132_46149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1461_953+1478del
ENST00000642170.1:n.1826+4555_1826+4572del
ENST00000642395.2:c.1905+690_1905+707del	ENSP00000493468.2:n.1905+690_1905+707del
ENST00000642739.1:c.1572+4555_1572+4572del	ENSP00000493596.1:n.1572+4555_1572+4572del
ENST00000644238.1:c.1386+4555_1386+4572del	ENSP00000496728.1:n.1386+4555_1386+4572del
ENST00000644337.1:c.1719+690_1719+707del	ENSP00000494557.1:n.1719+690_1719+707del
ENST00000645032.1:c.2595_2612del MANE Select	ENSP00000495537.1:p.Glu866_Gly871del
ENST00000645124.1:c.*101+690_*101+707del	ENSP00000496446.1:n.*101+690_*101+707del
ENST00000646020.1:c.*594+690_*594+707del	ENSP00000494745.1:n.*594+690_*594+707del
ENST00000318842.11:c.1905+690_1905+707del	ENSP00000322219.6:n.1905+690_1905+707del
ENST00000339363.7:c.2520+690_2520+707del	ENSP00000343671.3:n.2520+690_2520+707del
ENST00000378505.6:c.2595_2612del	ENSP00000367766.2:p.Glu866_Gly871del
ENST00000465127.1:c.172-379725_172-379708del	ENSP00000417050.1:n.172-379725_172-379708del
ENST00000474584.5:c.*37+4555_*37+4572del	ENSP00000418926.1:n.*37+4555_*37+4572del
ENST00000482855.5:c.1905+690_1905+707del	ENSP00000419276.1:n.1905+690_1905+707del
ENST00000494707.5:c.139+4555_139+4572del
NM_000328.2:c.1905+690_1905+707del	NP_000319.1:n.1905+690_1905+707del
NM_001034853.1:c.2595_2612del	NP_001030025.1:p.Glu866_Gly871del
XM_005272633.1:c.1572+4555_1572+4572del	XP_005272690.1:n.1572+4555_1572+4572del
XM_011543940.1:c.1902+690_1902+707del	XP_011542242.1:n.1902+690_1902+707del
XM_005272633.3:c.1572+4555_1572+4572del	XP_005272690.1:n.1572+4555_1572+4572del
XM_011543940.3:c.1902+690_1902+707del	XP_011542242.1:n.1902+690_1902+707del
XM_017029712.2:c.1569+4555_1569+4572del	XP_016885201.1:n.1569+4555_1569+4572del
NM_001367245.1:c.1902+690_1902+707del	NP_001354174.1:n.1902+690_1902+707del
NM_001367246.1:c.1719+690_1719+707del	NP_001354175.1:n.1719+690_1719+707del
NM_001367247.1:c.1572+4555_1572+4572del	NP_001354176.1:n.1572+4555_1572+4572del
NM_001367248.1:c.1602+4555_1602+4572del	NP_001354177.1:n.1602+4555_1602+4572del
NM_001367249.1:c.1569+4555_1569+4572del	NP_001354178.1:n.1569+4555_1569+4572del
NM_001367250.1:c.1569+4555_1569+4572del	NP_001354179.1:n.1569+4555_1569+4572del
NM_001367251.1:c.1386+4555_1386+4572del	NP_001354180.1:n.1386+4555_1386+4572del
NR_159803.1:n.2263+690_2263+707del
NR_159804.1:n.1648+4555_1648+4572del
NR_159805.1:n.1714+4555_1714+4572del
NR_159806.1:n.1866+690_1866+707del
NR_159807.1:n.1622+4555_1622+4572del
NR_159808.1:n.1826+4555_1826+4572del
NM_000328.3:c.1905+690_1905+707del	NP_000319.1:n.1905+690_1905+707del
NM_001034853.2:c.2595_2612del MANE Select	NP_001030025.1:p.Glu866_Gly871del