Canonical Allele Identifier: CA2693438893

Gene: RPGR

Linked Data

• gnomAD v4: X-38285997-T-TCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285999_38286000insCCC , CM000685.2:g.38285999_38286000insCCC	GRCh38
NC_000023.10:g.38145252_38145253insCCC , CM000685.1:g.38145252_38145253insCCC	GRCh37
NC_000023.9:g.38030196_38030197insCCC	NCBI36
NG_009553.1:g.46538_46539insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1867_953+1868insGGG
ENST00000642170.1:n.1826+4961_1826+4962insGGG
ENST00000642395.2:c.1905+1096_1905+1097insGGG	ENSP00000493468.2:n.1905+1096_1905+1097insGGG
ENST00000642739.1:c.1572+4961_1572+4962insGGG	ENSP00000493596.1:n.1572+4961_1572+4962insGGG
ENST00000644238.1:c.1386+4961_1386+4962insGGG	ENSP00000496728.1:n.1386+4961_1386+4962insGGG
ENST00000644337.1:c.1719+1096_1719+1097insGGG	ENSP00000494557.1:n.1719+1096_1719+1097insGGG
ENST00000645032.1:c.3001_3002insGGG MANE Select	ENSP00000495537.1:p.Glu1000_Glu1001insGly
ENST00000645124.1:c.*101+1096_*101+1097insGGG	ENSP00000496446.1:n.*101+1096_*101+1097insGGG
ENST00000646020.1:c.*594+1096_*594+1097insGGG	ENSP00000494745.1:n.*594+1096_*594+1097insGGG
ENST00000318842.11:c.1905+1096_1905+1097insGGG	ENSP00000322219.6:n.1905+1096_1905+1097insGGG
ENST00000339363.7:c.2520+1096_2520+1097insGGG	ENSP00000343671.3:n.2520+1096_2520+1097insGGG
ENST00000378505.6:c.3001_3002insGGG	ENSP00000367766.2:p.Glu1000_Glu1001insGly
ENST00000465127.1:c.172-380122_172-380121insCCC	ENSP00000417050.1:n.172-380122_172-380121insCCC
ENST00000474584.5:c.*37+4961_*37+4962insGGG	ENSP00000418926.1:n.*37+4961_*37+4962insGGG
ENST00000482855.5:c.1905+1096_1905+1097insGGG	ENSP00000419276.1:n.1905+1096_1905+1097insGGG
ENST00000494707.5:c.139+4961_139+4962insGGG
NM_000328.2:c.1905+1096_1905+1097insGGG	NP_000319.1:n.1905+1096_1905+1097insGGG
NM_001034853.1:c.3001_3002insGGG	NP_001030025.1:p.Glu1000_Glu1001insGly
XM_005272633.1:c.1572+4961_1572+4962insGGG	XP_005272690.1:n.1572+4961_1572+4962insGGG
XM_011543940.1:c.1902+1096_1902+1097insGGG	XP_011542242.1:n.1902+1096_1902+1097insGGG
XM_005272633.3:c.1572+4961_1572+4962insGGG	XP_005272690.1:n.1572+4961_1572+4962insGGG
XM_011543940.3:c.1902+1096_1902+1097insGGG	XP_011542242.1:n.1902+1096_1902+1097insGGG
XM_017029712.2:c.1569+4961_1569+4962insGGG	XP_016885201.1:n.1569+4961_1569+4962insGGG
NM_001367245.1:c.1902+1096_1902+1097insGGG	NP_001354174.1:n.1902+1096_1902+1097insGGG
NM_001367246.1:c.1719+1096_1719+1097insGGG	NP_001354175.1:n.1719+1096_1719+1097insGGG
NM_001367247.1:c.1572+4961_1572+4962insGGG	NP_001354176.1:n.1572+4961_1572+4962insGGG
NM_001367248.1:c.1602+4961_1602+4962insGGG	NP_001354177.1:n.1602+4961_1602+4962insGGG
NM_001367249.1:c.1569+4961_1569+4962insGGG	NP_001354178.1:n.1569+4961_1569+4962insGGG
NM_001367250.1:c.1569+4961_1569+4962insGGG	NP_001354179.1:n.1569+4961_1569+4962insGGG
NM_001367251.1:c.1386+4961_1386+4962insGGG	NP_001354180.1:n.1386+4961_1386+4962insGGG
NR_159803.1:n.2263+1096_2263+1097insGGG
NR_159804.1:n.1648+4961_1648+4962insGGG
NR_159805.1:n.1714+4961_1714+4962insGGG
NR_159806.1:n.1866+1096_1866+1097insGGG
NR_159807.1:n.1622+4961_1622+4962insGGG
NR_159808.1:n.1826+4961_1826+4962insGGG
NM_000328.3:c.1905+1096_1905+1097insGGG	NP_000319.1:n.1905+1096_1905+1097insGGG
NM_001034853.2:c.3001_3002insGGG MANE Select	NP_001030025.1:p.Glu1000_Glu1001insGly