Canonical Allele Identifier: CA1132419319

Gene: RPGR

Linked Data

• gnomAD v3: X-38285967-C-CCTT
• gnomAD v4: X-38285967-C-CCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285968_38285969insTTC , CM000685.2:g.38285968_38285969insTTC	GRCh38
NC_000023.10:g.38145221_38145222insTTC , CM000685.1:g.38145221_38145222insTTC	GRCh37
NC_000023.9:g.38030165_38030166insTTC	NCBI36
NG_009553.1:g.46568_46569insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1897_953+1898insAAG
ENST00000642170.1:n.1826+4991_1826+4992insAAG
ENST00000642395.2:c.1905+1126_1905+1127insAAG	ENSP00000493468.2:n.1905+1126_1905+1127insAAG
ENST00000642739.1:c.1572+4991_1572+4992insAAG	ENSP00000493596.1:n.1572+4991_1572+4992insAAG
ENST00000644238.1:c.1386+4991_1386+4992insAAG	ENSP00000496728.1:n.1386+4991_1386+4992insAAG
ENST00000644337.1:c.1719+1126_1719+1127insAAG	ENSP00000494557.1:n.1719+1126_1719+1127insAAG
ENST00000645032.1:c.3031_3032insAAG MANE Select	ENSP00000495537.1:p.Glu1010_Gly1011insGlu
ENST00000645124.1:c.*101+1126_*101+1127insAAG	ENSP00000496446.1:n.*101+1126_*101+1127insAAG
ENST00000646020.1:c.*594+1126_*594+1127insAAG	ENSP00000494745.1:n.*594+1126_*594+1127insAAG
ENST00000318842.11:c.1905+1126_1905+1127insAAG	ENSP00000322219.6:n.1905+1126_1905+1127insAAG
ENST00000339363.7:c.2520+1126_2520+1127insAAG	ENSP00000343671.3:n.2520+1126_2520+1127insAAG
ENST00000378505.6:c.3031_3032insAAG	ENSP00000367766.2:p.Glu1010_Gly1011insGlu
ENST00000465127.1:c.172-380153_172-380152insTTC	ENSP00000417050.1:n.172-380153_172-380152insTTC
ENST00000474584.5:c.*37+4991_*37+4992insAAG	ENSP00000418926.1:n.*37+4991_*37+4992insAAG
ENST00000482855.5:c.1905+1126_1905+1127insAAG	ENSP00000419276.1:n.1905+1126_1905+1127insAAG
ENST00000494707.5:c.139+4991_139+4992insAAG
NM_000328.2:c.1905+1126_1905+1127insAAG	NP_000319.1:n.1905+1126_1905+1127insAAG
NM_001034853.1:c.3031_3032insAAG	NP_001030025.1:p.Glu1010_Gly1011insGlu
XM_005272633.1:c.1572+4991_1572+4992insAAG	XP_005272690.1:n.1572+4991_1572+4992insAAG
XM_011543940.1:c.1902+1126_1902+1127insAAG	XP_011542242.1:n.1902+1126_1902+1127insAAG
XM_005272633.3:c.1572+4991_1572+4992insAAG	XP_005272690.1:n.1572+4991_1572+4992insAAG
XM_011543940.3:c.1902+1126_1902+1127insAAG	XP_011542242.1:n.1902+1126_1902+1127insAAG
XM_017029712.2:c.1569+4991_1569+4992insAAG	XP_016885201.1:n.1569+4991_1569+4992insAAG
NM_001367245.1:c.1902+1126_1902+1127insAAG	NP_001354174.1:n.1902+1126_1902+1127insAAG
NM_001367246.1:c.1719+1126_1719+1127insAAG	NP_001354175.1:n.1719+1126_1719+1127insAAG
NM_001367247.1:c.1572+4991_1572+4992insAAG	NP_001354176.1:n.1572+4991_1572+4992insAAG
NM_001367248.1:c.1602+4991_1602+4992insAAG	NP_001354177.1:n.1602+4991_1602+4992insAAG
NM_001367249.1:c.1569+4991_1569+4992insAAG	NP_001354178.1:n.1569+4991_1569+4992insAAG
NM_001367250.1:c.1569+4991_1569+4992insAAG	NP_001354179.1:n.1569+4991_1569+4992insAAG
NM_001367251.1:c.1386+4991_1386+4992insAAG	NP_001354180.1:n.1386+4991_1386+4992insAAG
NR_159803.1:n.2263+1126_2263+1127insAAG
NR_159804.1:n.1648+4991_1648+4992insAAG
NR_159805.1:n.1714+4991_1714+4992insAAG
NR_159806.1:n.1866+1126_1866+1127insAAG
NR_159807.1:n.1622+4991_1622+4992insAAG
NR_159808.1:n.1826+4991_1826+4992insAAG
NM_000328.3:c.1905+1126_1905+1127insAAG	NP_000319.1:n.1905+1126_1905+1127insAAG
NM_001034853.2:c.3031_3032insAAG MANE Select	NP_001030025.1:p.Glu1010_Gly1011insGlu