Canonical Allele Identifier: CA920406225

Gene: RPGR

Linked Data

• dbSNP Id: rs1555961507

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286162_38286163insTTCTCCATCCTCCCTCCC , CM000685.2:g.38286162_38286163insTTCTCCATCCTCCCTCCC	GRCh38
NC_000023.10:g.38145415_38145416insTTCTCCATCCTCCCTCCC , CM000685.1:g.38145415_38145416insTTCTCCATCCTCCCTCCC	GRCh37
NC_000023.9:g.38030359_38030360insTTCTCCATCCTCCCTCCC	NCBI36
NG_009553.1:g.46380_46381insAGGATGGAGAAGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1709_953+1710insAGGATGGAGAAGGGAGGG
ENST00000642170.1:n.1826+4803_1826+4804insAGGATGGAGAAGGGAGGG
ENST00000642395.2:c.1905+938_1905+939insAGGATGGAGAAGGGAGGG	ENSP00000493468.2:n.1905+938_1905+939insAGGATGGAGAAGGGAGGG
ENST00000642739.1:c.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG	ENSP00000493596.1:n.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG
ENST00000644238.1:c.1386+4803_1386+4804insAGGATGGAGAAGGGAGGG	ENSP00000496728.1:n.1386+4803_1386+4804insAGGATGGAGAAGGGAGGG
ENST00000644337.1:c.1719+938_1719+939insAGGATGGAGAAGGGAGGG	ENSP00000494557.1:n.1719+938_1719+939insAGGATGGAGAAGGGAGGG
ENST00000645032.1:c.2843_2844insAGGATGGAGAAGGGAGGG MANE Select	ENSP00000495537.1:p.Gly948_Glu949insGlyTrpArgArgGluGly
ENST00000645124.1:c.*101+938_*101+939insAGGATGGAGAAGGGAGGG	ENSP00000496446.1:n.*101+938_*101+939insAGGATGGAGAAGGGAGGG
ENST00000646020.1:c.*594+938_*594+939insAGGATGGAGAAGGGAGGG	ENSP00000494745.1:n.*594+938_*594+939insAGGATGGAGAAGGGAGGG
ENST00000318842.11:c.1905+938_1905+939insAGGATGGAGAAGGGAGGG	ENSP00000322219.6:n.1905+938_1905+939insAGGATGGAGAAGGGAGGG
ENST00000339363.7:c.2520+938_2520+939insAGGATGGAGAAGGGAGGG	ENSP00000343671.3:n.2520+938_2520+939insAGGATGGAGAAGGGAGGG
ENST00000378505.6:c.2843_2844insAGGATGGAGAAGGGAGGG	ENSP00000367766.2:p.Gly948_Glu949insGlyTrpArgArgGluGly
ENST00000465127.1:c.172-379959_172-379958insTTCTCCATCCTCCCTCCC	ENSP00000417050.1:n.172-379959_172-379958insTTCTCCATCCTCCCTCC...
ENST00000474584.5:c.*37+4803_*37+4804insAGGATGGAGAAGGGAGGG	ENSP00000418926.1:n.*37+4803_*37+4804insAGGATGGAGAAGGGAGGG
ENST00000482855.5:c.1905+938_1905+939insAGGATGGAGAAGGGAGGG	ENSP00000419276.1:n.1905+938_1905+939insAGGATGGAGAAGGGAGGG
ENST00000494707.5:c.139+4803_139+4804insAGGATGGAGAAGGGAGGG
NM_000328.2:c.1905+938_1905+939insAGGATGGAGAAGGGAGGG	NP_000319.1:n.1905+938_1905+939insAGGATGGAGAAGGGAGGG
NM_001034853.1:c.2843_2844insAGGATGGAGAAGGGAGGG	NP_001030025.1:p.Gly948_Glu949insGlyTrpArgArgGluGly
XM_005272633.1:c.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG	XP_005272690.1:n.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG
XM_011543940.1:c.1902+938_1902+939insAGGATGGAGAAGGGAGGG	XP_011542242.1:n.1902+938_1902+939insAGGATGGAGAAGGGAGGG
XM_005272633.3:c.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG	XP_005272690.1:n.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG
XM_011543940.3:c.1902+938_1902+939insAGGATGGAGAAGGGAGGG	XP_011542242.1:n.1902+938_1902+939insAGGATGGAGAAGGGAGGG
XM_017029712.2:c.1569+4803_1569+4804insAGGATGGAGAAGGGAGGG	XP_016885201.1:n.1569+4803_1569+4804insAGGATGGAGAAGGGAGGG
NM_001367245.1:c.1902+938_1902+939insAGGATGGAGAAGGGAGGG	NP_001354174.1:n.1902+938_1902+939insAGGATGGAGAAGGGAGGG
NM_001367246.1:c.1719+938_1719+939insAGGATGGAGAAGGGAGGG	NP_001354175.1:n.1719+938_1719+939insAGGATGGAGAAGGGAGGG
NM_001367247.1:c.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG	NP_001354176.1:n.1572+4803_1572+4804insAGGATGGAGAAGGGAGGG
NM_001367248.1:c.1602+4803_1602+4804insAGGATGGAGAAGGGAGGG	NP_001354177.1:n.1602+4803_1602+4804insAGGATGGAGAAGGGAGGG
NM_001367249.1:c.1569+4803_1569+4804insAGGATGGAGAAGGGAGGG	NP_001354178.1:n.1569+4803_1569+4804insAGGATGGAGAAGGGAGGG
NM_001367250.1:c.1569+4803_1569+4804insAGGATGGAGAAGGGAGGG	NP_001354179.1:n.1569+4803_1569+4804insAGGATGGAGAAGGGAGGG
NM_001367251.1:c.1386+4803_1386+4804insAGGATGGAGAAGGGAGGG	NP_001354180.1:n.1386+4803_1386+4804insAGGATGGAGAAGGGAGGG
NR_159803.1:n.2263+938_2263+939insAGGATGGAGAAGGGAGGG
NR_159804.1:n.1648+4803_1648+4804insAGGATGGAGAAGGGAGGG
NR_159805.1:n.1714+4803_1714+4804insAGGATGGAGAAGGGAGGG
NR_159806.1:n.1866+938_1866+939insAGGATGGAGAAGGGAGGG
NR_159807.1:n.1622+4803_1622+4804insAGGATGGAGAAGGGAGGG
NR_159808.1:n.1826+4803_1826+4804insAGGATGGAGAAGGGAGGG
NM_000328.3:c.1905+938_1905+939insAGGATGGAGAAGGGAGGG	NP_000319.1:n.1905+938_1905+939insAGGATGGAGAAGGGAGGG
NM_001034853.2:c.2843_2844insAGGATGGAGAAGGGAGGG MANE Select	NP_001030025.1:p.Gly948_Glu949insGlyTrpArgArgGluGly