Canonical Allele Identifier: CA2693438899
Gene: RPGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38286008_38286009insCC , CM000685.2:g.38286008_38286009insCC GRCh38
NC_000023.10:g.38145261_38145262insCC , CM000685.1:g.38145261_38145262insCC GRCh37
NC_000023.9:g.38030205_38030206insCC NCBI36
NG_009553.1:g.46527_46528insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1856_953+1857insGG
ENST00000642170.1:n.1826+4950_1826+4951insGG
ENST00000642395.2:c.1905+1085_1905+1086insGG ENSP00000493468.2:n.1905+1085_1905+1086insGG
ENST00000642739.1:c.1572+4950_1572+4951insGG ENSP00000493596.1:n.1572+4950_1572+4951insGG
ENST00000644238.1:c.1386+4950_1386+4951insGG ENSP00000496728.1:n.1386+4950_1386+4951insGG
ENST00000644337.1:c.1719+1085_1719+1086insGG ENSP00000494557.1:n.1719+1085_1719+1086insGG
ENST00000645032.1:c.2990_2991insGG MANE Select ENSP00000495537.1:p.Gly999LysfsTer?
ENST00000645124.1:c.*101+1085_*101+1086insGG ENSP00000496446.1:n.*101+1085_*101+1086insGG
ENST00000646020.1:c.*594+1085_*594+1086insGG ENSP00000494745.1:n.*594+1085_*594+1086insGG
ENST00000318842.11:c.1905+1085_1905+1086insGG ENSP00000322219.6:n.1905+1085_1905+1086insGG
ENST00000339363.7:c.2520+1085_2520+1086insGG ENSP00000343671.3:n.2520+1085_2520+1086insGG
ENST00000378505.6:c.2990_2991insGG ENSP00000367766.2:p.Gly999LysfsTer?
ENST00000465127.1:c.172-380113_172-380112insCC ENSP00000417050.1:n.172-380113_172-380112insCC
ENST00000474584.5:c.*37+4950_*37+4951insGG ENSP00000418926.1:n.*37+4950_*37+4951insGG
ENST00000482855.5:c.1905+1085_1905+1086insGG ENSP00000419276.1:n.1905+1085_1905+1086insGG
ENST00000494707.5:c.139+4950_139+4951insGG
NM_000328.2:c.1905+1085_1905+1086insGG NP_000319.1:n.1905+1085_1905+1086insGG
NM_001034853.1:c.2990_2991insGG NP_001030025.1:p.Gly999LysfsTer?
XM_005272633.1:c.1572+4950_1572+4951insGG XP_005272690.1:n.1572+4950_1572+4951insGG
XM_011543940.1:c.1902+1085_1902+1086insGG XP_011542242.1:n.1902+1085_1902+1086insGG
XM_005272633.3:c.1572+4950_1572+4951insGG XP_005272690.1:n.1572+4950_1572+4951insGG
XM_011543940.3:c.1902+1085_1902+1086insGG XP_011542242.1:n.1902+1085_1902+1086insGG
XM_017029712.2:c.1569+4950_1569+4951insGG XP_016885201.1:n.1569+4950_1569+4951insGG
NM_001367245.1:c.1902+1085_1902+1086insGG NP_001354174.1:n.1902+1085_1902+1086insGG
NM_001367246.1:c.1719+1085_1719+1086insGG NP_001354175.1:n.1719+1085_1719+1086insGG
NM_001367247.1:c.1572+4950_1572+4951insGG NP_001354176.1:n.1572+4950_1572+4951insGG
NM_001367248.1:c.1602+4950_1602+4951insGG NP_001354177.1:n.1602+4950_1602+4951insGG
NM_001367249.1:c.1569+4950_1569+4951insGG NP_001354178.1:n.1569+4950_1569+4951insGG
NM_001367250.1:c.1569+4950_1569+4951insGG NP_001354179.1:n.1569+4950_1569+4951insGG
NM_001367251.1:c.1386+4950_1386+4951insGG NP_001354180.1:n.1386+4950_1386+4951insGG
NR_159803.1:n.2263+1085_2263+1086insGG
NR_159804.1:n.1648+4950_1648+4951insGG
NR_159805.1:n.1714+4950_1714+4951insGG
NR_159806.1:n.1866+1085_1866+1086insGG
NR_159807.1:n.1622+4950_1622+4951insGG
NR_159808.1:n.1826+4950_1826+4951insGG
NM_000328.3:c.1905+1085_1905+1086insGG NP_000319.1:n.1905+1085_1905+1086insGG
NM_001034853.2:c.2990_2991insGG MANE Select NP_001030025.1:p.Gly999LysfsTer?