Canonical Allele Identifier: CA2580100797

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2064369
• ClinVar RCV Id: RCV002943414

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285751_38285755del , CM000685.2:g.38285751_38285755del	GRCh38
NC_000023.10:g.38145004_38145008del , CM000685.1:g.38145004_38145008del	GRCh37
NC_000023.9:g.38029948_38029952del	NCBI36
NG_009553.1:g.46785_46789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+2114_953+2118del
ENST00000642170.1:n.1826+5208_1826+5212del
ENST00000642395.2:c.1905+1343_1905+1347del	ENSP00000493468.2:n.1905+1343_1905+1347del
ENST00000642739.1:c.1572+5208_1572+5212del	ENSP00000493596.1:n.1572+5208_1572+5212del
ENST00000644238.1:c.1386+5208_1386+5212del	ENSP00000496728.1:n.1386+5208_1386+5212del
ENST00000644337.1:c.1719+1343_1719+1347del	ENSP00000494557.1:n.1719+1343_1719+1347del
ENST00000645032.1:c.3248_3252del MANE Select	ENSP00000495537.1:p.Glu1083ValfsTer17
ENST00000645124.1:c.*101+1343_*101+1347del	ENSP00000496446.1:n.*101+1343_*101+1347del
ENST00000646020.1:c.*594+1343_*594+1347del	ENSP00000494745.1:n.*594+1343_*594+1347del
ENST00000318842.11:c.1905+1343_1905+1347del	ENSP00000322219.6:n.1905+1343_1905+1347del
ENST00000339363.7:c.2520+1343_2520+1347del	ENSP00000343671.3:n.2520+1343_2520+1347del
ENST00000378505.6:c.3248_3252del	ENSP00000367766.2:p.Glu1083ValfsTer17
ENST00000465127.1:c.172-380370_172-380366del	ENSP00000417050.1:n.172-380370_172-380366del
ENST00000474584.5:c.*37+5208_*37+5212del	ENSP00000418926.1:n.*37+5208_*37+5212del
ENST00000482855.5:c.1905+1343_1905+1347del	ENSP00000419276.1:n.1905+1343_1905+1347del
ENST00000494707.5:c.139+5208_139+5212del
NM_000328.2:c.1905+1343_1905+1347del	NP_000319.1:n.1905+1343_1905+1347del
NM_001034853.1:c.3248_3252del	NP_001030025.1:p.Glu1083ValfsTer17
XM_005272633.1:c.1572+5208_1572+5212del	XP_005272690.1:n.1572+5208_1572+5212del
XM_011543940.1:c.1902+1343_1902+1347del	XP_011542242.1:n.1902+1343_1902+1347del
XM_005272633.3:c.1572+5208_1572+5212del	XP_005272690.1:n.1572+5208_1572+5212del
XM_011543940.3:c.1902+1343_1902+1347del	XP_011542242.1:n.1902+1343_1902+1347del
XM_017029712.2:c.1569+5208_1569+5212del	XP_016885201.1:n.1569+5208_1569+5212del
NM_001367245.1:c.1902+1343_1902+1347del	NP_001354174.1:n.1902+1343_1902+1347del
NM_001367246.1:c.1719+1343_1719+1347del	NP_001354175.1:n.1719+1343_1719+1347del
NM_001367247.1:c.1572+5208_1572+5212del	NP_001354176.1:n.1572+5208_1572+5212del
NM_001367248.1:c.1602+5208_1602+5212del	NP_001354177.1:n.1602+5208_1602+5212del
NM_001367249.1:c.1569+5208_1569+5212del	NP_001354178.1:n.1569+5208_1569+5212del
NM_001367250.1:c.1569+5208_1569+5212del	NP_001354179.1:n.1569+5208_1569+5212del
NM_001367251.1:c.1386+5208_1386+5212del	NP_001354180.1:n.1386+5208_1386+5212del
NR_159803.1:n.2263+1343_2263+1347del
NR_159804.1:n.1648+5208_1648+5212del
NR_159805.1:n.1714+5208_1714+5212del
NR_159806.1:n.1866+1343_1866+1347del
NR_159807.1:n.1622+5208_1622+5212del
NR_159808.1:n.1826+5208_1826+5212del
NM_000328.3:c.1905+1343_1905+1347del	NP_000319.1:n.1905+1343_1905+1347del
NM_001034853.2:c.3248_3252del MANE Select	NP_001030025.1:p.Glu1083ValfsTer17