Canonical Allele Identifier: CA2424844355

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286053_38286062delinsTTCCCCCTCC , CM000685.2:g.38286053_38286062delinsTTCCCCCTCC	GRCh38
NC_000023.10:g.38145306_38145315delinsTTCCCCCTCC , CM000685.1:g.38145306_38145315delinsTTCCCCCTCC	GRCh37
NC_000023.9:g.38030250_38030259delinsTTCCCCCTCC	NCBI36
NG_009553.1:g.46474_46483delinsGGAGGGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1803_953+1812delinsGGAGGGGGAA
ENST00000642170.1:n.1826+4897_1826+4906delinsGGAGGGGGAA
ENST00000642395.2:c.1905+1032_1905+1041delinsGGAGGGGGAA	ENSP00000493468.2:n.1905+1032_1905+1041delinsGGAGGGGGAA
ENST00000642739.1:c.1572+4897_1572+4906delinsGGAGGGGGAA	ENSP00000493596.1:n.1572+4897_1572+4906delinsGGAGGGGGAA
ENST00000644238.1:c.1386+4897_1386+4906delinsGGAGGGGGAA	ENSP00000496728.1:n.1386+4897_1386+4906delinsGGAGGGGGAA
ENST00000644337.1:c.1719+1032_1719+1041delinsGGAGGGGGAA	ENSP00000494557.1:n.1719+1032_1719+1041delinsGGAGGGGGAA
ENST00000645032.1:c.2937_2946delinsGGAGGGGGAA MANE Select	ENSP00000495537.1:p.Gly979=
ENST00000645124.1:c.*101+1032_*101+1041delinsGGAGGGGGAA	ENSP00000496446.1:n.*101+1032_*101+1041delinsGGAGGGGGAA
ENST00000646020.1:c.*594+1032_*594+1041delinsGGAGGGGGAA	ENSP00000494745.1:n.*594+1032_*594+1041delinsGGAGGGGGAA
ENST00000318842.11:c.1905+1032_1905+1041delinsGGAGGGGGAA	ENSP00000322219.6:n.1905+1032_1905+1041delinsGGAGGGGGAA
ENST00000339363.7:c.2520+1032_2520+1041delinsGGAGGGGGAA	ENSP00000343671.3:n.2520+1032_2520+1041delinsGGAGGGGGAA
ENST00000378505.6:c.2937_2946delinsGGAGGGGGAA	ENSP00000367766.2:p.Gly979=
ENST00000465127.1:c.172-380068_172-380059delinsTTCCCCCTCC	ENSP00000417050.1:n.172-380068_172-380059delinsTTCCCCCTCC
ENST00000474584.5:c.*37+4897_*37+4906delinsGGAGGGGGAA	ENSP00000418926.1:n.*37+4897_*37+4906delinsGGAGGGGGAA
ENST00000482855.5:c.1905+1032_1905+1041delinsGGAGGGGGAA	ENSP00000419276.1:n.1905+1032_1905+1041delinsGGAGGGGGAA
ENST00000494707.5:c.139+4897_139+4906delinsGGAGGGGGAA
NM_000328.2:c.1905+1032_1905+1041delinsGGAGGGGGAA	NP_000319.1:n.1905+1032_1905+1041delinsGGAGGGGGAA
NM_001034853.1:c.2937_2946delinsGGAGGGGGAA	NP_001030025.1:p.Gly979=
XM_005272633.1:c.1572+4897_1572+4906delinsGGAGGGGGAA	XP_005272690.1:n.1572+4897_1572+4906delinsGGAGGGGGAA
XM_011543940.1:c.1902+1032_1902+1041delinsGGAGGGGGAA	XP_011542242.1:n.1902+1032_1902+1041delinsGGAGGGGGAA
XM_005272633.3:c.1572+4897_1572+4906delinsGGAGGGGGAA	XP_005272690.1:n.1572+4897_1572+4906delinsGGAGGGGGAA
XM_011543940.3:c.1902+1032_1902+1041delinsGGAGGGGGAA	XP_011542242.1:n.1902+1032_1902+1041delinsGGAGGGGGAA
XM_017029712.2:c.1569+4897_1569+4906delinsGGAGGGGGAA	XP_016885201.1:n.1569+4897_1569+4906delinsGGAGGGGGAA
NM_001367245.1:c.1902+1032_1902+1041delinsGGAGGGGGAA	NP_001354174.1:n.1902+1032_1902+1041delinsGGAGGGGGAA
NM_001367246.1:c.1719+1032_1719+1041delinsGGAGGGGGAA	NP_001354175.1:n.1719+1032_1719+1041delinsGGAGGGGGAA
NM_001367247.1:c.1572+4897_1572+4906delinsGGAGGGGGAA	NP_001354176.1:n.1572+4897_1572+4906delinsGGAGGGGGAA
NM_001367248.1:c.1602+4897_1602+4906delinsGGAGGGGGAA	NP_001354177.1:n.1602+4897_1602+4906delinsGGAGGGGGAA
NM_001367249.1:c.1569+4897_1569+4906delinsGGAGGGGGAA	NP_001354178.1:n.1569+4897_1569+4906delinsGGAGGGGGAA
NM_001367250.1:c.1569+4897_1569+4906delinsGGAGGGGGAA	NP_001354179.1:n.1569+4897_1569+4906delinsGGAGGGGGAA
NM_001367251.1:c.1386+4897_1386+4906delinsGGAGGGGGAA	NP_001354180.1:n.1386+4897_1386+4906delinsGGAGGGGGAA
NR_159803.1:n.2263+1032_2263+1041delinsGGAGGGGGAA
NR_159804.1:n.1648+4897_1648+4906delinsGGAGGGGGAA
NR_159805.1:n.1714+4897_1714+4906delinsGGAGGGGGAA
NR_159806.1:n.1866+1032_1866+1041delinsGGAGGGGGAA
NR_159807.1:n.1622+4897_1622+4906delinsGGAGGGGGAA
NR_159808.1:n.1826+4897_1826+4906delinsGGAGGGGGAA
NM_000328.3:c.1905+1032_1905+1041delinsGGAGGGGGAA	NP_000319.1:n.1905+1032_1905+1041delinsGGAGGGGGAA
NM_001034853.2:c.2937_2946delinsGGAGGGGGAA MANE Select	NP_001030025.1:p.Gly979=