Canonical Allele Identifier: CA2424844101

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285697_38285699delinsTTA , CM000685.2:g.38285697_38285699delinsTTA	GRCh38
NC_000023.10:g.38144950_38144952delinsTTA , CM000685.1:g.38144950_38144952delinsTTA	GRCh37
NC_000023.9:g.38029894_38029896delinsTTA	NCBI36
NG_009553.1:g.46837_46839delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+2166_953+2168delinsTAA
ENST00000642170.1:n.1826+5260_1826+5262delinsTAA
ENST00000642395.2:c.1905+1395_1905+1397delinsTAA	ENSP00000493468.2:n.1905+1395_1905+1397delinsTAA
ENST00000642739.1:c.1572+5260_1572+5262delinsTAA	ENSP00000493596.1:n.1572+5260_1572+5262delinsTAA
ENST00000644238.1:c.1386+5260_1386+5262delinsTAA	ENSP00000496728.1:n.1386+5260_1386+5262delinsTAA
ENST00000644337.1:c.1719+1395_1719+1397delinsTAA	ENSP00000494557.1:n.1719+1395_1719+1397delinsTAA
ENST00000645032.1:c.3300_3302delinsTAA MANE Select	ENSP00000495537.1:p.His1100=
ENST00000645124.1:c.*101+1395_*101+1397delinsTAA	ENSP00000496446.1:n.*101+1395_*101+1397delinsTAA
ENST00000646020.1:c.*594+1395_*594+1397delinsTAA	ENSP00000494745.1:n.*594+1395_*594+1397delinsTAA
ENST00000318842.11:c.1905+1395_1905+1397delinsTAA	ENSP00000322219.6:n.1905+1395_1905+1397delinsTAA
ENST00000339363.7:c.2520+1395_2520+1397delinsTAA	ENSP00000343671.3:n.2520+1395_2520+1397delinsTAA
ENST00000378505.6:c.3300_3302delinsTAA	ENSP00000367766.2:p.His1100=
ENST00000465127.1:c.172-380424_172-380422delinsTTA	ENSP00000417050.1:n.172-380424_172-380422delinsTTA
ENST00000474584.5:c.*37+5260_*37+5262delinsTAA	ENSP00000418926.1:n.*37+5260_*37+5262delinsTAA
ENST00000482855.5:c.1905+1395_1905+1397delinsTAA	ENSP00000419276.1:n.1905+1395_1905+1397delinsTAA
ENST00000494707.5:c.139+5260_139+5262delinsTAA
NM_000328.2:c.1905+1395_1905+1397delinsTAA	NP_000319.1:n.1905+1395_1905+1397delinsTAA
NM_001034853.1:c.3300_3302delinsTAA	NP_001030025.1:p.His1100=
XM_005272633.1:c.1572+5260_1572+5262delinsTAA	XP_005272690.1:n.1572+5260_1572+5262delinsTAA
XM_011543940.1:c.1902+1395_1902+1397delinsTAA	XP_011542242.1:n.1902+1395_1902+1397delinsTAA
XM_005272633.3:c.1572+5260_1572+5262delinsTAA	XP_005272690.1:n.1572+5260_1572+5262delinsTAA
XM_011543940.3:c.1902+1395_1902+1397delinsTAA	XP_011542242.1:n.1902+1395_1902+1397delinsTAA
XM_017029712.2:c.1569+5260_1569+5262delinsTAA	XP_016885201.1:n.1569+5260_1569+5262delinsTAA
NM_001367245.1:c.1902+1395_1902+1397delinsTAA	NP_001354174.1:n.1902+1395_1902+1397delinsTAA
NM_001367246.1:c.1719+1395_1719+1397delinsTAA	NP_001354175.1:n.1719+1395_1719+1397delinsTAA
NM_001367247.1:c.1572+5260_1572+5262delinsTAA	NP_001354176.1:n.1572+5260_1572+5262delinsTAA
NM_001367248.1:c.1602+5260_1602+5262delinsTAA	NP_001354177.1:n.1602+5260_1602+5262delinsTAA
NM_001367249.1:c.1569+5260_1569+5262delinsTAA	NP_001354178.1:n.1569+5260_1569+5262delinsTAA
NM_001367250.1:c.1569+5260_1569+5262delinsTAA	NP_001354179.1:n.1569+5260_1569+5262delinsTAA
NM_001367251.1:c.1386+5260_1386+5262delinsTAA	NP_001354180.1:n.1386+5260_1386+5262delinsTAA
NR_159803.1:n.2263+1395_2263+1397delinsTAA
NR_159804.1:n.1648+5260_1648+5262delinsTAA
NR_159805.1:n.1714+5260_1714+5262delinsTAA
NR_159806.1:n.1866+1395_1866+1397delinsTAA
NR_159807.1:n.1622+5260_1622+5262delinsTAA
NR_159808.1:n.1826+5260_1826+5262delinsTAA
NM_000328.3:c.1905+1395_1905+1397delinsTAA	NP_000319.1:n.1905+1395_1905+1397delinsTAA
NM_001034853.2:c.3300_3302delinsTAA MANE Select	NP_001030025.1:p.His1100=