Canonical Allele Identifier: CA412729827
Gene: RPGR HGNC NCBI

Linked Data

dbSNP Id: rs1555961555

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286230_38286231insCCTTCTCCA , CM000685.2:g.38286230_38286231insCCTTCTCCA GRCh38
NC_000023.10:g.38145483_38145484insCCTTCTCCA , CM000685.1:g.38145483_38145484insCCTTCTCCA GRCh37
NC_000023.9:g.38030427_38030428insCCTTCTCCA NCBI36
NG_009553.1:g.46305_46306insTGGAGAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1634_953+1635insTGGAGAAGG
ENST00000642170.1:n.1826+4728_1826+4729insTGGAGAAGG
ENST00000642395.2:c.1905+863_1905+864insTGGAGAAGG ENSP00000493468.2:n.1905+863_1905+864insTGGAGAAGG
ENST00000642739.1:c.1572+4728_1572+4729insTGGAGAAGG ENSP00000493596.1:n.1572+4728_1572+4729insTGGAGAAGG
ENST00000644238.1:c.1386+4728_1386+4729insTGGAGAAGG ENSP00000496728.1:n.1386+4728_1386+4729insTGGAGAAGG
ENST00000644337.1:c.1719+863_1719+864insTGGAGAAGG ENSP00000494557.1:n.1719+863_1719+864insTGGAGAAGG
ENST00000645032.1:c.2768_2769insTGGAGAAGG MANE Select ENSP00000495537.1:p.Glu923delinsAspGlyGluGly
ENST00000645124.1:c.*101+863_*101+864insTGGAGAAGG ENSP00000496446.1:n.*101+863_*101+864insTGGAGAAGG
ENST00000646020.1:c.*594+863_*594+864insTGGAGAAGG ENSP00000494745.1:n.*594+863_*594+864insTGGAGAAGG
ENST00000318842.11:c.1905+863_1905+864insTGGAGAAGG ENSP00000322219.6:n.1905+863_1905+864insTGGAGAAGG
ENST00000339363.7:c.2520+863_2520+864insTGGAGAAGG ENSP00000343671.3:n.2520+863_2520+864insTGGAGAAGG
ENST00000378505.6:c.2768_2769insTGGAGAAGG ENSP00000367766.2:p.Glu923delinsAspGlyGluGly
ENST00000465127.1:c.172-379891_172-379890insCCTTCTCCA ENSP00000417050.1:n.172-379891_172-379890insCCTTCTCCA
ENST00000474584.5:c.*37+4728_*37+4729insTGGAGAAGG ENSP00000418926.1:n.*37+4728_*37+4729insTGGAGAAGG
ENST00000482855.5:c.1905+863_1905+864insTGGAGAAGG ENSP00000419276.1:n.1905+863_1905+864insTGGAGAAGG
ENST00000494707.5:c.139+4728_139+4729insTGGAGAAGG
NM_000328.2:c.1905+863_1905+864insTGGAGAAGG NP_000319.1:n.1905+863_1905+864insTGGAGAAGG
NM_001034853.1:c.2768_2769insTGGAGAAGG NP_001030025.1:p.Glu923delinsAspGlyGluGly
XM_005272633.1:c.1572+4728_1572+4729insTGGAGAAGG XP_005272690.1:n.1572+4728_1572+4729insTGGAGAAGG
XM_011543940.1:c.1902+863_1902+864insTGGAGAAGG XP_011542242.1:n.1902+863_1902+864insTGGAGAAGG
XM_005272633.3:c.1572+4728_1572+4729insTGGAGAAGG XP_005272690.1:n.1572+4728_1572+4729insTGGAGAAGG
XM_011543940.3:c.1902+863_1902+864insTGGAGAAGG XP_011542242.1:n.1902+863_1902+864insTGGAGAAGG
XM_017029712.2:c.1569+4728_1569+4729insTGGAGAAGG XP_016885201.1:n.1569+4728_1569+4729insTGGAGAAGG
NM_001367245.1:c.1902+863_1902+864insTGGAGAAGG NP_001354174.1:n.1902+863_1902+864insTGGAGAAGG
NM_001367246.1:c.1719+863_1719+864insTGGAGAAGG NP_001354175.1:n.1719+863_1719+864insTGGAGAAGG
NM_001367247.1:c.1572+4728_1572+4729insTGGAGAAGG NP_001354176.1:n.1572+4728_1572+4729insTGGAGAAGG
NM_001367248.1:c.1602+4728_1602+4729insTGGAGAAGG NP_001354177.1:n.1602+4728_1602+4729insTGGAGAAGG
NM_001367249.1:c.1569+4728_1569+4729insTGGAGAAGG NP_001354178.1:n.1569+4728_1569+4729insTGGAGAAGG
NM_001367250.1:c.1569+4728_1569+4729insTGGAGAAGG NP_001354179.1:n.1569+4728_1569+4729insTGGAGAAGG
NM_001367251.1:c.1386+4728_1386+4729insTGGAGAAGG NP_001354180.1:n.1386+4728_1386+4729insTGGAGAAGG
NR_159803.1:n.2263+863_2263+864insTGGAGAAGG
NR_159804.1:n.1648+4728_1648+4729insTGGAGAAGG
NR_159805.1:n.1714+4728_1714+4729insTGGAGAAGG
NR_159806.1:n.1866+863_1866+864insTGGAGAAGG
NR_159807.1:n.1622+4728_1622+4729insTGGAGAAGG
NR_159808.1:n.1826+4728_1826+4729insTGGAGAAGG
NM_000328.3:c.1905+863_1905+864insTGGAGAAGG NP_000319.1:n.1905+863_1905+864insTGGAGAAGG
NM_001034853.2:c.2768_2769insTGGAGAAGG MANE Select NP_001030025.1:p.Glu923delinsAspGlyGluGly