Canonical Allele Identifier: CA2820486527

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286010_38286011insCC , CM000685.2:g.38286010_38286011insCC	GRCh38
NC_000023.10:g.38145263_38145264insCC , CM000685.1:g.38145263_38145264insCC	GRCh37
NC_000023.9:g.38030207_38030208insCC	NCBI36
NG_009553.1:g.46526_46527insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1855_953+1856insGG
ENST00000642170.1:n.1826+4949_1826+4950insGG
ENST00000642395.2:c.1905+1084_1905+1085insGG	ENSP00000493468.2:n.1905+1084_1905+1085insGG
ENST00000642739.1:c.1572+4949_1572+4950insGG	ENSP00000493596.1:n.1572+4949_1572+4950insGG
ENST00000644238.1:c.1386+4949_1386+4950insGG	ENSP00000496728.1:n.1386+4949_1386+4950insGG
ENST00000644337.1:c.1719+1084_1719+1085insGG	ENSP00000494557.1:n.1719+1084_1719+1085insGG
ENST00000645032.1:c.2989_2990insGG MANE Select	ENSP00000495537.1:p.Glu997GlyfsTer?
ENST00000645124.1:c.*101+1084_*101+1085insGG	ENSP00000496446.1:n.*101+1084_*101+1085insGG
ENST00000646020.1:c.*594+1084_*594+1085insGG	ENSP00000494745.1:n.*594+1084_*594+1085insGG
ENST00000318842.11:c.1905+1084_1905+1085insGG	ENSP00000322219.6:n.1905+1084_1905+1085insGG
ENST00000339363.7:c.2520+1084_2520+1085insGG	ENSP00000343671.3:n.2520+1084_2520+1085insGG
ENST00000378505.6:c.2989_2990insGG	ENSP00000367766.2:p.Glu997GlyfsTer?
ENST00000465127.1:c.172-380111_172-380110insCC	ENSP00000417050.1:n.172-380111_172-380110insCC
ENST00000474584.5:c.*37+4949_*37+4950insGG	ENSP00000418926.1:n.*37+4949_*37+4950insGG
ENST00000482855.5:c.1905+1084_1905+1085insGG	ENSP00000419276.1:n.1905+1084_1905+1085insGG
ENST00000494707.5:c.139+4949_139+4950insGG
NM_000328.2:c.1905+1084_1905+1085insGG	NP_000319.1:n.1905+1084_1905+1085insGG
NM_001034853.1:c.2989_2990insGG	NP_001030025.1:p.Glu997GlyfsTer?
XM_005272633.1:c.1572+4949_1572+4950insGG	XP_005272690.1:n.1572+4949_1572+4950insGG
XM_011543940.1:c.1902+1084_1902+1085insGG	XP_011542242.1:n.1902+1084_1902+1085insGG
XM_005272633.3:c.1572+4949_1572+4950insGG	XP_005272690.1:n.1572+4949_1572+4950insGG
XM_011543940.3:c.1902+1084_1902+1085insGG	XP_011542242.1:n.1902+1084_1902+1085insGG
XM_017029712.2:c.1569+4949_1569+4950insGG	XP_016885201.1:n.1569+4949_1569+4950insGG
NM_001367245.1:c.1902+1084_1902+1085insGG	NP_001354174.1:n.1902+1084_1902+1085insGG
NM_001367246.1:c.1719+1084_1719+1085insGG	NP_001354175.1:n.1719+1084_1719+1085insGG
NM_001367247.1:c.1572+4949_1572+4950insGG	NP_001354176.1:n.1572+4949_1572+4950insGG
NM_001367248.1:c.1602+4949_1602+4950insGG	NP_001354177.1:n.1602+4949_1602+4950insGG
NM_001367249.1:c.1569+4949_1569+4950insGG	NP_001354178.1:n.1569+4949_1569+4950insGG
NM_001367250.1:c.1569+4949_1569+4950insGG	NP_001354179.1:n.1569+4949_1569+4950insGG
NM_001367251.1:c.1386+4949_1386+4950insGG	NP_001354180.1:n.1386+4949_1386+4950insGG
NR_159803.1:n.2263+1084_2263+1085insGG
NR_159804.1:n.1648+4949_1648+4950insGG
NR_159805.1:n.1714+4949_1714+4950insGG
NR_159806.1:n.1866+1084_1866+1085insGG
NR_159807.1:n.1622+4949_1622+4950insGG
NR_159808.1:n.1826+4949_1826+4950insGG
NM_000328.3:c.1905+1084_1905+1085insGG	NP_000319.1:n.1905+1084_1905+1085insGG
NM_001034853.2:c.2989_2990insGG MANE Select	NP_001030025.1:p.Glu997GlyfsTer?