Canonical Allele Identifier: CA2515286143

Gene: RPGR

Linked Data

• dbSNP Id: rs2147192842
• gnomAD v4: X-38286038-T-TTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286039_38286040insGGT , CM000685.2:g.38286039_38286040insGGT	GRCh38
NC_000023.10:g.38145292_38145293insGGT , CM000685.1:g.38145292_38145293insGGT	GRCh37
NC_000023.9:g.38030236_38030237insGGT	NCBI36
NG_009553.1:g.46497_46498insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1826_953+1827insCCA
ENST00000642170.1:n.1826+4920_1826+4921insCCA
ENST00000642395.2:c.1905+1055_1905+1056insCCA	ENSP00000493468.2:n.1905+1055_1905+1056insCCA
ENST00000642739.1:c.1572+4920_1572+4921insCCA	ENSP00000493596.1:n.1572+4920_1572+4921insCCA
ENST00000644238.1:c.1386+4920_1386+4921insCCA	ENSP00000496728.1:n.1386+4920_1386+4921insCCA
ENST00000644337.1:c.1719+1055_1719+1056insCCA	ENSP00000494557.1:n.1719+1055_1719+1056insCCA
ENST00000645032.1:c.2960_2961insCCA MANE Select	ENSP00000495537.1:p.Glu987delinsAspGln
ENST00000645124.1:c.*101+1055_*101+1056insCCA	ENSP00000496446.1:n.*101+1055_*101+1056insCCA
ENST00000646020.1:c.*594+1055_*594+1056insCCA	ENSP00000494745.1:n.*594+1055_*594+1056insCCA
ENST00000318842.11:c.1905+1055_1905+1056insCCA	ENSP00000322219.6:n.1905+1055_1905+1056insCCA
ENST00000339363.7:c.2520+1055_2520+1056insCCA	ENSP00000343671.3:n.2520+1055_2520+1056insCCA
ENST00000378505.6:c.2960_2961insCCA	ENSP00000367766.2:p.Glu987delinsAspGln
ENST00000465127.1:c.172-380082_172-380081insGGT	ENSP00000417050.1:n.172-380082_172-380081insGGT
ENST00000474584.5:c.*37+4920_*37+4921insCCA	ENSP00000418926.1:n.*37+4920_*37+4921insCCA
ENST00000482855.5:c.1905+1055_1905+1056insCCA	ENSP00000419276.1:n.1905+1055_1905+1056insCCA
ENST00000494707.5:c.139+4920_139+4921insCCA
NM_000328.2:c.1905+1055_1905+1056insCCA	NP_000319.1:n.1905+1055_1905+1056insCCA
NM_001034853.1:c.2960_2961insCCA	NP_001030025.1:p.Glu987delinsAspGln
XM_005272633.1:c.1572+4920_1572+4921insCCA	XP_005272690.1:n.1572+4920_1572+4921insCCA
XM_011543940.1:c.1902+1055_1902+1056insCCA	XP_011542242.1:n.1902+1055_1902+1056insCCA
XM_005272633.3:c.1572+4920_1572+4921insCCA	XP_005272690.1:n.1572+4920_1572+4921insCCA
XM_011543940.3:c.1902+1055_1902+1056insCCA	XP_011542242.1:n.1902+1055_1902+1056insCCA
XM_017029712.2:c.1569+4920_1569+4921insCCA	XP_016885201.1:n.1569+4920_1569+4921insCCA
NM_001367245.1:c.1902+1055_1902+1056insCCA	NP_001354174.1:n.1902+1055_1902+1056insCCA
NM_001367246.1:c.1719+1055_1719+1056insCCA	NP_001354175.1:n.1719+1055_1719+1056insCCA
NM_001367247.1:c.1572+4920_1572+4921insCCA	NP_001354176.1:n.1572+4920_1572+4921insCCA
NM_001367248.1:c.1602+4920_1602+4921insCCA	NP_001354177.1:n.1602+4920_1602+4921insCCA
NM_001367249.1:c.1569+4920_1569+4921insCCA	NP_001354178.1:n.1569+4920_1569+4921insCCA
NM_001367250.1:c.1569+4920_1569+4921insCCA	NP_001354179.1:n.1569+4920_1569+4921insCCA
NM_001367251.1:c.1386+4920_1386+4921insCCA	NP_001354180.1:n.1386+4920_1386+4921insCCA
NR_159803.1:n.2263+1055_2263+1056insCCA
NR_159804.1:n.1648+4920_1648+4921insCCA
NR_159805.1:n.1714+4920_1714+4921insCCA
NR_159806.1:n.1866+1055_1866+1056insCCA
NR_159807.1:n.1622+4920_1622+4921insCCA
NR_159808.1:n.1826+4920_1826+4921insCCA
NM_000328.3:c.1905+1055_1905+1056insCCA	NP_000319.1:n.1905+1055_1905+1056insCCA
NM_001034853.2:c.2960_2961insCCA MANE Select	NP_001030025.1:p.Glu987delinsAspGln