Canonical Allele Identifier: CA2693439093
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286446_38286447insCTG , CM000685.2:g.38286446_38286447insCTG GRCh38
NC_000023.10:g.38145699_38145700insCTG , CM000685.1:g.38145699_38145700insCTG GRCh37
NC_000023.9:g.38030643_38030644insCTG NCBI36
NG_009553.1:g.46089_46090insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1418_953+1419insCAG
ENST00000642170.1:n.1826+4512_1826+4513insCAG
ENST00000642395.2:c.1905+647_1905+648insCAG ENSP00000493468.2:n.1905+647_1905+648insCAG
ENST00000642739.1:c.1572+4512_1572+4513insCAG ENSP00000493596.1:n.1572+4512_1572+4513insCAG
ENST00000644238.1:c.1386+4512_1386+4513insCAG ENSP00000496728.1:n.1386+4512_1386+4513insCAG
ENST00000644337.1:c.1719+647_1719+648insCAG ENSP00000494557.1:n.1719+647_1719+648insCAG
ENST00000645032.1:c.2552_2553insCAG MANE Select ENSP00000495537.1:p.Glu851delinsAspArg
ENST00000645124.1:c.*101+647_*101+648insCAG ENSP00000496446.1:n.*101+647_*101+648insCAG
ENST00000646020.1:c.*594+647_*594+648insCAG ENSP00000494745.1:n.*594+647_*594+648insCAG
ENST00000318842.11:c.1905+647_1905+648insCAG ENSP00000322219.6:n.1905+647_1905+648insCAG
ENST00000339363.7:c.2520+647_2520+648insCAG ENSP00000343671.3:n.2520+647_2520+648insCAG
ENST00000378505.6:c.2552_2553insCAG ENSP00000367766.2:p.Glu851delinsAspArg
ENST00000465127.1:c.172-379675_172-379674insCTG ENSP00000417050.1:n.172-379675_172-379674insCTG
ENST00000474584.5:c.*37+4512_*37+4513insCAG ENSP00000418926.1:n.*37+4512_*37+4513insCAG
ENST00000482855.5:c.1905+647_1905+648insCAG ENSP00000419276.1:n.1905+647_1905+648insCAG
ENST00000494707.5:c.139+4512_139+4513insCAG
NM_000328.2:c.1905+647_1905+648insCAG NP_000319.1:n.1905+647_1905+648insCAG
NM_001034853.1:c.2552_2553insCAG NP_001030025.1:p.Glu851delinsAspArg
XM_005272633.1:c.1572+4512_1572+4513insCAG XP_005272690.1:n.1572+4512_1572+4513insCAG
XM_011543940.1:c.1902+647_1902+648insCAG XP_011542242.1:n.1902+647_1902+648insCAG
XM_005272633.3:c.1572+4512_1572+4513insCAG XP_005272690.1:n.1572+4512_1572+4513insCAG
XM_011543940.3:c.1902+647_1902+648insCAG XP_011542242.1:n.1902+647_1902+648insCAG
XM_017029712.2:c.1569+4512_1569+4513insCAG XP_016885201.1:n.1569+4512_1569+4513insCAG
NM_001367245.1:c.1902+647_1902+648insCAG NP_001354174.1:n.1902+647_1902+648insCAG
NM_001367246.1:c.1719+647_1719+648insCAG NP_001354175.1:n.1719+647_1719+648insCAG
NM_001367247.1:c.1572+4512_1572+4513insCAG NP_001354176.1:n.1572+4512_1572+4513insCAG
NM_001367248.1:c.1602+4512_1602+4513insCAG NP_001354177.1:n.1602+4512_1602+4513insCAG
NM_001367249.1:c.1569+4512_1569+4513insCAG NP_001354178.1:n.1569+4512_1569+4513insCAG
NM_001367250.1:c.1569+4512_1569+4513insCAG NP_001354179.1:n.1569+4512_1569+4513insCAG
NM_001367251.1:c.1386+4512_1386+4513insCAG NP_001354180.1:n.1386+4512_1386+4513insCAG
NR_159803.1:n.2263+647_2263+648insCAG
NR_159804.1:n.1648+4512_1648+4513insCAG
NR_159805.1:n.1714+4512_1714+4513insCAG
NR_159806.1:n.1866+647_1866+648insCAG
NR_159807.1:n.1622+4512_1622+4513insCAG
NR_159808.1:n.1826+4512_1826+4513insCAG
NM_000328.3:c.1905+647_1905+648insCAG NP_000319.1:n.1905+647_1905+648insCAG
NM_001034853.2:c.2552_2553insCAG MANE Select NP_001030025.1:p.Glu851delinsAspArg