Canonical Allele Identifier: CA2424844660

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286387_38286390delinsCCTT , CM000685.2:g.38286387_38286390delinsCCTT	GRCh38
NC_000023.10:g.38145640_38145643delinsCCTT , CM000685.1:g.38145640_38145643delinsCCTT	GRCh37
NC_000023.9:g.38030584_38030587delinsCCTT	NCBI36
NG_009553.1:g.46146_46149delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1475_953+1478delinsAAGG
ENST00000642170.1:n.1826+4569_1826+4572delinsAAGG
ENST00000642395.2:c.1905+704_1905+707delinsAAGG	ENSP00000493468.2:n.1905+704_1905+707delinsAAGG
ENST00000642739.1:c.1572+4569_1572+4572delinsAAGG	ENSP00000493596.1:n.1572+4569_1572+4572delinsAAGG
ENST00000644238.1:c.1386+4569_1386+4572delinsAAGG	ENSP00000496728.1:n.1386+4569_1386+4572delinsAAGG
ENST00000644337.1:c.1719+704_1719+707delinsAAGG	ENSP00000494557.1:n.1719+704_1719+707delinsAAGG
ENST00000645032.1:c.2609_2612delinsAAGG MANE Select	ENSP00000495537.1:p.Glu870=
ENST00000645124.1:c.*101+704_*101+707delinsAAGG	ENSP00000496446.1:n.*101+704_*101+707delinsAAGG
ENST00000646020.1:c.*594+704_*594+707delinsAAGG	ENSP00000494745.1:n.*594+704_*594+707delinsAAGG
ENST00000318842.11:c.1905+704_1905+707delinsAAGG	ENSP00000322219.6:n.1905+704_1905+707delinsAAGG
ENST00000339363.7:c.2520+704_2520+707delinsAAGG	ENSP00000343671.3:n.2520+704_2520+707delinsAAGG
ENST00000378505.6:c.2609_2612delinsAAGG	ENSP00000367766.2:p.Glu870=
ENST00000465127.1:c.172-379734_172-379731delinsCCTT	ENSP00000417050.1:n.172-379734_172-379731delinsCCTT
ENST00000474584.5:c.*37+4569_*37+4572delinsAAGG	ENSP00000418926.1:n.*37+4569_*37+4572delinsAAGG
ENST00000482855.5:c.1905+704_1905+707delinsAAGG	ENSP00000419276.1:n.1905+704_1905+707delinsAAGG
ENST00000494707.5:c.139+4569_139+4572delinsAAGG
NM_000328.2:c.1905+704_1905+707delinsAAGG	NP_000319.1:n.1905+704_1905+707delinsAAGG
NM_001034853.1:c.2609_2612delinsAAGG	NP_001030025.1:p.Glu870=
XM_005272633.1:c.1572+4569_1572+4572delinsAAGG	XP_005272690.1:n.1572+4569_1572+4572delinsAAGG
XM_011543940.1:c.1902+704_1902+707delinsAAGG	XP_011542242.1:n.1902+704_1902+707delinsAAGG
XM_005272633.3:c.1572+4569_1572+4572delinsAAGG	XP_005272690.1:n.1572+4569_1572+4572delinsAAGG
XM_011543940.3:c.1902+704_1902+707delinsAAGG	XP_011542242.1:n.1902+704_1902+707delinsAAGG
XM_017029712.2:c.1569+4569_1569+4572delinsAAGG	XP_016885201.1:n.1569+4569_1569+4572delinsAAGG
NM_001367245.1:c.1902+704_1902+707delinsAAGG	NP_001354174.1:n.1902+704_1902+707delinsAAGG
NM_001367246.1:c.1719+704_1719+707delinsAAGG	NP_001354175.1:n.1719+704_1719+707delinsAAGG
NM_001367247.1:c.1572+4569_1572+4572delinsAAGG	NP_001354176.1:n.1572+4569_1572+4572delinsAAGG
NM_001367248.1:c.1602+4569_1602+4572delinsAAGG	NP_001354177.1:n.1602+4569_1602+4572delinsAAGG
NM_001367249.1:c.1569+4569_1569+4572delinsAAGG	NP_001354178.1:n.1569+4569_1569+4572delinsAAGG
NM_001367250.1:c.1569+4569_1569+4572delinsAAGG	NP_001354179.1:n.1569+4569_1569+4572delinsAAGG
NM_001367251.1:c.1386+4569_1386+4572delinsAAGG	NP_001354180.1:n.1386+4569_1386+4572delinsAAGG
NR_159803.1:n.2263+704_2263+707delinsAAGG
NR_159804.1:n.1648+4569_1648+4572delinsAAGG
NR_159805.1:n.1714+4569_1714+4572delinsAAGG
NR_159806.1:n.1866+704_1866+707delinsAAGG
NR_159807.1:n.1622+4569_1622+4572delinsAAGG
NR_159808.1:n.1826+4569_1826+4572delinsAAGG
NM_000328.3:c.1905+704_1905+707delinsAAGG	NP_000319.1:n.1905+704_1905+707delinsAAGG
NM_001034853.2:c.2609_2612delinsAAGG MANE Select	NP_001030025.1:p.Glu870=