Canonical Allele Identifier: CA2424844870

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286658_38286659delinsCT , CM000685.2:g.38286658_38286659delinsCT	GRCh38
NC_000023.10:g.38145911_38145912delinsCT , CM000685.1:g.38145911_38145912delinsCT	GRCh37
NC_000023.9:g.38030855_38030856delinsCT	NCBI36
NG_009553.1:g.45877_45878delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1206_953+1207delinsAG
ENST00000642170.1:n.1826+4300_1826+4301delinsAG
ENST00000642395.2:c.1905+435_1905+436delinsAG	ENSP00000493468.2:n.1905+435_1905+436deli...
ENST00000642739.1:c.1572+4300_1572+4301delinsAG	ENSP00000493596.1:n.1572+4300_1572+4301de...
ENST00000644238.1:c.1386+4300_1386+4301delinsAG	ENSP00000496728.1:n.1386+4300_1386+4301de...
ENST00000644337.1:c.1719+435_1719+436delinsAG	ENSP00000494557.1:n.1719+435_1719+436deli...
ENST00000645032.1:c.2340_2341delinsAG MANE Select	ENSP00000495537.1:p.Arg780=
ENST00000645124.1:c.*101+435_*101+436delinsAG	ENSP00000496446.1:n.*101+435_*101+436deli...
ENST00000646020.1:c.*594+435_*594+436delinsAG	ENSP00000494745.1:n.*594+435_*594+436deli...
ENST00000318842.11:c.1905+435_1905+436delinsAG	ENSP00000322219.6:n.1905+435_1905+436deli...
ENST00000339363.7:c.2520+435_2520+436delinsAG	ENSP00000343671.3:n.2520+435_2520+436deli...
ENST00000378505.6:c.2340_2341delinsAG	ENSP00000367766.2:p.Arg780=
ENST00000465127.1:c.172-379463_172-379462delinsCT	ENSP00000417050.1:n.172-379463_172-379462...
ENST00000474584.5:c.*37+4300_*37+4301delinsAG	ENSP00000418926.1:n.*37+4300_*37+4301deli...
ENST00000482855.5:c.1905+435_1905+436delinsAG	ENSP00000419276.1:n.1905+435_1905+436deli...
ENST00000494707.5:c.139+4300_139+4301delinsAG
NM_000328.2:c.1905+435_1905+436delinsAG	NP_000319.1:n.1905+435_1905+436delinsAG
NM_001034853.1:c.2340_2341delinsAG	NP_001030025.1:p.Arg780=
XM_005272633.1:c.1572+4300_1572+4301delinsAG	XP_005272690.1:n.1572+4300_1572+4301delin...
XM_011543940.1:c.1902+435_1902+436delinsAG	XP_011542242.1:n.1902+435_1902+436delinsA...
XM_005272633.3:c.1572+4300_1572+4301delinsAG	XP_005272690.1:n.1572+4300_1572+4301delin...
XM_011543940.3:c.1902+435_1902+436delinsAG	XP_011542242.1:n.1902+435_1902+436delinsA...
XM_017029712.2:c.1569+4300_1569+4301delinsAG	XP_016885201.1:n.1569+4300_1569+4301delin...
NM_001367245.1:c.1902+435_1902+436delinsAG	NP_001354174.1:n.1902+435_1902+436delinsA...
NM_001367246.1:c.1719+435_1719+436delinsAG	NP_001354175.1:n.1719+435_1719+436delinsA...
NM_001367247.1:c.1572+4300_1572+4301delinsAG	NP_001354176.1:n.1572+4300_1572+4301delin...
NM_001367248.1:c.1602+4300_1602+4301delinsAG	NP_001354177.1:n.1602+4300_1602+4301delin...
NM_001367249.1:c.1569+4300_1569+4301delinsAG	NP_001354178.1:n.1569+4300_1569+4301delin...
NM_001367250.1:c.1569+4300_1569+4301delinsAG	NP_001354179.1:n.1569+4300_1569+4301delin...
NM_001367251.1:c.1386+4300_1386+4301delinsAG	NP_001354180.1:n.1386+4300_1386+4301delin...
NR_159803.1:n.2263+435_2263+436delinsAG
NR_159804.1:n.1648+4300_1648+4301delinsAG
NR_159805.1:n.1714+4300_1714+4301delinsAG
NR_159806.1:n.1866+435_1866+436delinsAG
NR_159807.1:n.1622+4300_1622+4301delinsAG
NR_159808.1:n.1826+4300_1826+4301delinsAG
NM_000328.3:c.1905+435_1905+436delinsAG	NP_000319.1:n.1905+435_1905+436delinsAG
NM_001034853.2:c.2340_2341delinsAG MANE Select	NP_001030025.1:p.Arg780=