Canonical Allele Identifier: CA2693438978

Gene: RPGR

Linked Data

• gnomAD v4: X-38286141-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286143_38286145del , CM000685.2:g.38286143_38286145del	GRCh38
NC_000023.10:g.38145396_38145398del , CM000685.1:g.38145396_38145398del	GRCh37
NC_000023.9:g.38030340_38030342del	NCBI36
NG_009553.1:g.46392_46394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1721_953+1723del
ENST00000642170.1:n.1826+4815_1826+4817del
ENST00000642395.2:c.1905+950_1905+952del	ENSP00000493468.2:n.1905+950_1905+952del
ENST00000642739.1:c.1572+4815_1572+4817del	ENSP00000493596.1:n.1572+4815_1572+4817del
ENST00000644238.1:c.1386+4815_1386+4817del	ENSP00000496728.1:n.1386+4815_1386+4817del
ENST00000644337.1:c.1719+950_1719+952del	ENSP00000494557.1:n.1719+950_1719+952del
ENST00000645032.1:c.2855_2857del MANE Select	ENSP00000495537.1:p.Glu952del
ENST00000645124.1:c.*101+950_*101+952del	ENSP00000496446.1:n.*101+950_*101+952del
ENST00000646020.1:c.*594+950_*594+952del	ENSP00000494745.1:n.*594+950_*594+952del
ENST00000318842.11:c.1905+950_1905+952del	ENSP00000322219.6:n.1905+950_1905+952del
ENST00000339363.7:c.2520+950_2520+952del	ENSP00000343671.3:n.2520+950_2520+952del
ENST00000378505.6:c.2855_2857del	ENSP00000367766.2:p.Glu952del
ENST00000465127.1:c.172-379978_172-379976del	ENSP00000417050.1:n.172-379978_172-379976del
ENST00000474584.5:c.*37+4815_*37+4817del	ENSP00000418926.1:n.*37+4815_*37+4817del
ENST00000482855.5:c.1905+950_1905+952del	ENSP00000419276.1:n.1905+950_1905+952del
ENST00000494707.5:c.139+4815_139+4817del
NM_000328.2:c.1905+950_1905+952del	NP_000319.1:n.1905+950_1905+952del
NM_001034853.1:c.2855_2857del	NP_001030025.1:p.Glu952del
XM_005272633.1:c.1572+4815_1572+4817del	XP_005272690.1:n.1572+4815_1572+4817del
XM_011543940.1:c.1902+950_1902+952del	XP_011542242.1:n.1902+950_1902+952del
XM_005272633.3:c.1572+4815_1572+4817del	XP_005272690.1:n.1572+4815_1572+4817del
XM_011543940.3:c.1902+950_1902+952del	XP_011542242.1:n.1902+950_1902+952del
XM_017029712.2:c.1569+4815_1569+4817del	XP_016885201.1:n.1569+4815_1569+4817del
NM_001367245.1:c.1902+950_1902+952del	NP_001354174.1:n.1902+950_1902+952del
NM_001367246.1:c.1719+950_1719+952del	NP_001354175.1:n.1719+950_1719+952del
NM_001367247.1:c.1572+4815_1572+4817del	NP_001354176.1:n.1572+4815_1572+4817del
NM_001367248.1:c.1602+4815_1602+4817del	NP_001354177.1:n.1602+4815_1602+4817del
NM_001367249.1:c.1569+4815_1569+4817del	NP_001354178.1:n.1569+4815_1569+4817del
NM_001367250.1:c.1569+4815_1569+4817del	NP_001354179.1:n.1569+4815_1569+4817del
NM_001367251.1:c.1386+4815_1386+4817del	NP_001354180.1:n.1386+4815_1386+4817del
NR_159803.1:n.2263+950_2263+952del
NR_159804.1:n.1648+4815_1648+4817del
NR_159805.1:n.1714+4815_1714+4817del
NR_159806.1:n.1866+950_1866+952del
NR_159807.1:n.1622+4815_1622+4817del
NR_159808.1:n.1826+4815_1826+4817del
NM_000328.3:c.1905+950_1905+952del	NP_000319.1:n.1905+950_1905+952del
NM_001034853.2:c.2855_2857del MANE Select	NP_001030025.1:p.Glu952del