Canonical Allele Identifier: CA2424844289
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38285991_38286006delinsCCTTCTTCCTCCCCTT , CM000685.2:g.38285991_38286006delinsCCTTCTTCCTCCCCTT GRCh38
NC_000023.10:g.38145244_38145259delinsCCTTCTTCCTCCCCTT , CM000685.1:g.38145244_38145259delinsCCTTCTTCCTCCCCTT GRCh37
NC_000023.9:g.38030188_38030203delinsCCTTCTTCCTCCCCTT NCBI36
NG_009553.1:g.46530_46545delinsAAGGGGAGGAAGAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494707.6:c.953+1859_953+1874delinsAAGGGGAGGAAGAAGG
ENST00000642170.1:n.1826+4953_1826+4968delinsAAGGGGAGGAAGAAGG
ENST00000642395.2:c.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG ENSP00000493468.2:n.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG...
ENST00000642739.1:c.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG ENSP00000493596.1:n.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG...
ENST00000644238.1:c.1386+4953_1386+4968delinsAAGGGGAGGAAGAAGG ENSP00000496728.1:n.1386+4953_1386+4968delinsAAGGGGAGGAAGAAGG...
ENST00000644337.1:c.1719+1088_1719+1103delinsAAGGGGAGGAAGAAGG ENSP00000494557.1:n.1719+1088_1719+1103delinsAAGGGGAGGAAGAAGG...
ENST00000645032.1:c.2993_3008delinsAAGGGGAGGAAGAAGG MANE Select ENSP00000495537.1:p.Glu998=
ENST00000645124.1:c.*101+1088_*101+1103delinsAAGGGGAGGAAGAAGG ENSP00000496446.1:n.*101+1088_*101+1103delinsAAGGGGAGGAAGAAGG...
ENST00000646020.1:c.*594+1088_*594+1103delinsAAGGGGAGGAAGAAGG ENSP00000494745.1:n.*594+1088_*594+1103delinsAAGGGGAGGAAGAAGG...
ENST00000318842.11:c.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG ENSP00000322219.6:n.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG...
ENST00000339363.7:c.2520+1088_2520+1103delinsAAGGGGAGGAAGAAGG ENSP00000343671.3:n.2520+1088_2520+1103delinsAAGGGGAGGAAGAAGG...
ENST00000378505.6:c.2993_3008delinsAAGGGGAGGAAGAAGG ENSP00000367766.2:p.Glu998=
ENST00000465127.1:c.172-380130_172-380115delinsCCTTCTTCCTCCCCTT ENSP00000417050.1:n.172-380130_172-380115delinsCCTTCTTCCTCCCC...
ENST00000474584.5:c.*37+4953_*37+4968delinsAAGGGGAGGAAGAAGG ENSP00000418926.1:n.*37+4953_*37+4968delinsAAGGGGAGGAAGAAGG
ENST00000482855.5:c.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG ENSP00000419276.1:n.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG...
ENST00000494707.5:c.139+4953_139+4968delinsAAGGGGAGGAAGAAGG
NM_000328.2:c.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG NP_000319.1:n.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG
NM_001034853.1:c.2993_3008delinsAAGGGGAGGAAGAAGG NP_001030025.1:p.Glu998=
XM_005272633.1:c.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG XP_005272690.1:n.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG
XM_011543940.1:c.1902+1088_1902+1103delinsAAGGGGAGGAAGAAGG XP_011542242.1:n.1902+1088_1902+1103delinsAAGGGGAGGAAGAAGG
XM_005272633.3:c.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG XP_005272690.1:n.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG
XM_011543940.3:c.1902+1088_1902+1103delinsAAGGGGAGGAAGAAGG XP_011542242.1:n.1902+1088_1902+1103delinsAAGGGGAGGAAGAAGG
XM_017029712.2:c.1569+4953_1569+4968delinsAAGGGGAGGAAGAAGG XP_016885201.1:n.1569+4953_1569+4968delinsAAGGGGAGGAAGAAGG
NM_001367245.1:c.1902+1088_1902+1103delinsAAGGGGAGGAAGAAGG NP_001354174.1:n.1902+1088_1902+1103delinsAAGGGGAGGAAGAAGG
NM_001367246.1:c.1719+1088_1719+1103delinsAAGGGGAGGAAGAAGG NP_001354175.1:n.1719+1088_1719+1103delinsAAGGGGAGGAAGAAGG
NM_001367247.1:c.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG NP_001354176.1:n.1572+4953_1572+4968delinsAAGGGGAGGAAGAAGG
NM_001367248.1:c.1602+4953_1602+4968delinsAAGGGGAGGAAGAAGG NP_001354177.1:n.1602+4953_1602+4968delinsAAGGGGAGGAAGAAGG
NM_001367249.1:c.1569+4953_1569+4968delinsAAGGGGAGGAAGAAGG NP_001354178.1:n.1569+4953_1569+4968delinsAAGGGGAGGAAGAAGG
NM_001367250.1:c.1569+4953_1569+4968delinsAAGGGGAGGAAGAAGG NP_001354179.1:n.1569+4953_1569+4968delinsAAGGGGAGGAAGAAGG
NM_001367251.1:c.1386+4953_1386+4968delinsAAGGGGAGGAAGAAGG NP_001354180.1:n.1386+4953_1386+4968delinsAAGGGGAGGAAGAAGG
NR_159803.1:n.2263+1088_2263+1103delinsAAGGGGAGGAAGAAGG
NR_159804.1:n.1648+4953_1648+4968delinsAAGGGGAGGAAGAAGG
NR_159805.1:n.1714+4953_1714+4968delinsAAGGGGAGGAAGAAGG
NR_159806.1:n.1866+1088_1866+1103delinsAAGGGGAGGAAGAAGG
NR_159807.1:n.1622+4953_1622+4968delinsAAGGGGAGGAAGAAGG
NR_159808.1:n.1826+4953_1826+4968delinsAAGGGGAGGAAGAAGG
NM_000328.3:c.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG NP_000319.1:n.1905+1088_1905+1103delinsAAGGGGAGGAAGAAGG
NM_001034853.2:c.2993_3008delinsAAGGGGAGGAAGAAGG MANE Select NP_001030025.1:p.Glu998=