Canonical Allele Identifier: CA1132419885

Gene: RPGR

Linked Data

• gnomAD v3: X-38286107-CCCTTCT-C
• gnomAD v4: X-38286107-CCCTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286113_38286118del , CM000685.2:g.38286113_38286118del	GRCh38
NC_000023.10:g.38145366_38145371del , CM000685.1:g.38145366_38145371del	GRCh37
NC_000023.9:g.38030310_38030315del	NCBI36
NG_009553.1:g.46423_46428del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1752_953+1757del
ENST00000642170.1:n.1826+4846_1826+4851del
ENST00000642395.2:c.1905+981_1905+986del	ENSP00000493468.2:n.1905+981_1905+986del
ENST00000642739.1:c.1572+4846_1572+4851del	ENSP00000493596.1:n.1572+4846_1572+4851de...
ENST00000644238.1:c.1386+4846_1386+4851del	ENSP00000496728.1:n.1386+4846_1386+4851de...
ENST00000644337.1:c.1719+981_1719+986del	ENSP00000494557.1:n.1719+981_1719+986del
ENST00000645032.1:c.2886_2891del MANE Select	ENSP00000495537.1:p.Glu963_Gly964del
ENST00000645124.1:c.*101+981_*101+986del	ENSP00000496446.1:n.*101+981_*101+986del
ENST00000646020.1:c.*594+981_*594+986del	ENSP00000494745.1:n.*594+981_*594+986del
ENST00000318842.11:c.1905+981_1905+986del	ENSP00000322219.6:n.1905+981_1905+986del
ENST00000339363.7:c.2520+981_2520+986del	ENSP00000343671.3:n.2520+981_2520+986del
ENST00000378505.6:c.2886_2891del	ENSP00000367766.2:p.Glu963_Gly964del
ENST00000465127.1:c.172-380008_172-380003del	ENSP00000417050.1:n.172-380008_172-380003...
ENST00000474584.5:c.*37+4846_*37+4851del	ENSP00000418926.1:n.*37+4846_*37+4851del
ENST00000482855.5:c.1905+981_1905+986del	ENSP00000419276.1:n.1905+981_1905+986del
ENST00000494707.5:c.139+4846_139+4851del
NM_000328.2:c.1905+981_1905+986del	NP_000319.1:n.1905+981_1905+986del
NM_001034853.1:c.2886_2891del	NP_001030025.1:p.Glu963_Gly964del
XM_005272633.1:c.1572+4846_1572+4851del	XP_005272690.1:n.1572+4846_1572+4851del
XM_011543940.1:c.1902+981_1902+986del	XP_011542242.1:n.1902+981_1902+986del
XM_005272633.3:c.1572+4846_1572+4851del	XP_005272690.1:n.1572+4846_1572+4851del
XM_011543940.3:c.1902+981_1902+986del	XP_011542242.1:n.1902+981_1902+986del
XM_017029712.2:c.1569+4846_1569+4851del	XP_016885201.1:n.1569+4846_1569+4851del
NM_001367245.1:c.1902+981_1902+986del	NP_001354174.1:n.1902+981_1902+986del
NM_001367246.1:c.1719+981_1719+986del	NP_001354175.1:n.1719+981_1719+986del
NM_001367247.1:c.1572+4846_1572+4851del	NP_001354176.1:n.1572+4846_1572+4851del
NM_001367248.1:c.1602+4846_1602+4851del	NP_001354177.1:n.1602+4846_1602+4851del
NM_001367249.1:c.1569+4846_1569+4851del	NP_001354178.1:n.1569+4846_1569+4851del
NM_001367250.1:c.1569+4846_1569+4851del	NP_001354179.1:n.1569+4846_1569+4851del
NM_001367251.1:c.1386+4846_1386+4851del	NP_001354180.1:n.1386+4846_1386+4851del
NR_159803.1:n.2263+981_2263+986del
NR_159804.1:n.1648+4846_1648+4851del
NR_159805.1:n.1714+4846_1714+4851del
NR_159806.1:n.1866+981_1866+986del
NR_159807.1:n.1622+4846_1622+4851del
NR_159808.1:n.1826+4846_1826+4851del
NM_000328.3:c.1905+981_1905+986del	NP_000319.1:n.1905+981_1905+986del
NM_001034853.2:c.2886_2891del MANE Select	NP_001030025.1:p.Glu963_Gly964del