Canonical Allele Identifier: CA2579584395
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286097_38286098insCCC , CM000685.2:g.38286097_38286098insCCC GRCh38
NC_000023.10:g.38145350_38145351insCCC , CM000685.1:g.38145350_38145351insCCC GRCh37
NC_000023.9:g.38030294_38030295insCCC NCBI36
NG_009553.1:g.46439_46440insGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1768_953+1769insGGG
ENST00000642170.1:n.1826+4862_1826+4863insGGG
ENST00000642395.2:c.1905+997_1905+998insGGG ENSP00000493468.2:n.1905+997_1905+998insGGG
ENST00000642739.1:c.1572+4862_1572+4863insGGG ENSP00000493596.1:n.1572+4862_1572+4863insGGG
ENST00000644238.1:c.1386+4862_1386+4863insGGG ENSP00000496728.1:n.1386+4862_1386+4863insGGG
ENST00000644337.1:c.1719+997_1719+998insGGG ENSP00000494557.1:n.1719+997_1719+998insGGG
ENST00000645032.1:c.2902_2903insGGG MANE Select ENSP00000495537.1:p.Glu967_Glu968insGly
ENST00000645124.1:c.*101+997_*101+998insGGG ENSP00000496446.1:n.*101+997_*101+998insGGG
ENST00000646020.1:c.*594+997_*594+998insGGG ENSP00000494745.1:n.*594+997_*594+998insGGG
ENST00000318842.11:c.1905+997_1905+998insGGG ENSP00000322219.6:n.1905+997_1905+998insGGG
ENST00000339363.7:c.2520+997_2520+998insGGG ENSP00000343671.3:n.2520+997_2520+998insGGG
ENST00000378505.6:c.2902_2903insGGG ENSP00000367766.2:p.Glu967_Glu968insGly
ENST00000465127.1:c.172-380024_172-380023insCCC ENSP00000417050.1:n.172-380024_172-380023insCCC
ENST00000474584.5:c.*37+4862_*37+4863insGGG ENSP00000418926.1:n.*37+4862_*37+4863insGGG
ENST00000482855.5:c.1905+997_1905+998insGGG ENSP00000419276.1:n.1905+997_1905+998insGGG
ENST00000494707.5:c.139+4862_139+4863insGGG
NM_000328.2:c.1905+997_1905+998insGGG NP_000319.1:n.1905+997_1905+998insGGG
NM_001034853.1:c.2902_2903insGGG NP_001030025.1:p.Glu967_Glu968insGly
XM_005272633.1:c.1572+4862_1572+4863insGGG XP_005272690.1:n.1572+4862_1572+4863insGGG
XM_011543940.1:c.1902+997_1902+998insGGG XP_011542242.1:n.1902+997_1902+998insGGG
XM_005272633.3:c.1572+4862_1572+4863insGGG XP_005272690.1:n.1572+4862_1572+4863insGGG
XM_011543940.3:c.1902+997_1902+998insGGG XP_011542242.1:n.1902+997_1902+998insGGG
XM_017029712.2:c.1569+4862_1569+4863insGGG XP_016885201.1:n.1569+4862_1569+4863insGGG
NM_001367245.1:c.1902+997_1902+998insGGG NP_001354174.1:n.1902+997_1902+998insGGG
NM_001367246.1:c.1719+997_1719+998insGGG NP_001354175.1:n.1719+997_1719+998insGGG
NM_001367247.1:c.1572+4862_1572+4863insGGG NP_001354176.1:n.1572+4862_1572+4863insGGG
NM_001367248.1:c.1602+4862_1602+4863insGGG NP_001354177.1:n.1602+4862_1602+4863insGGG
NM_001367249.1:c.1569+4862_1569+4863insGGG NP_001354178.1:n.1569+4862_1569+4863insGGG
NM_001367250.1:c.1569+4862_1569+4863insGGG NP_001354179.1:n.1569+4862_1569+4863insGGG
NM_001367251.1:c.1386+4862_1386+4863insGGG NP_001354180.1:n.1386+4862_1386+4863insGGG
NR_159803.1:n.2263+997_2263+998insGGG
NR_159804.1:n.1648+4862_1648+4863insGGG
NR_159805.1:n.1714+4862_1714+4863insGGG
NR_159806.1:n.1866+997_1866+998insGGG
NR_159807.1:n.1622+4862_1622+4863insGGG
NR_159808.1:n.1826+4862_1826+4863insGGG
NM_000328.3:c.1905+997_1905+998insGGG NP_000319.1:n.1905+997_1905+998insGGG
NM_001034853.2:c.2902_2903insGGG MANE Select NP_001030025.1:p.Glu967_Glu968insGly