Canonical Allele Identifier: CA226367
Community Standard Title: NM_001034853.2(RPGR):c.1512_1513del (p.Ile505HisfsTer7)
Gene: RPGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38291023_38291024del , CM000685.2:g.38291023_38291024del GRCh38
NC_000023.10:g.38150276_38150277del , CM000685.1:g.38150276_38150277del GRCh37
NC_000023.9:g.38035220_38035221del NCBI36
NG_009553.1:g.41517_41518del

Transcript Alleles

HGVS Amino-acid Change
NM_001034853.2:c.1512_1513del MANE Select NP_001030025.1:p.Ile505HisfsTer7
ENST00000645032.1:c.1512_1513del MANE Select ENSP00000495537.1:p.Ile505HisfsTer7
NM_000328.2:c.1512_1513del NP_000319.1:p.Ile505HisfsTer7
NM_000328.3:c.1512_1513del NP_000319.1:p.Ile505HisfsTer7
NM_001034853.1:c.1512_1513del NP_001030025.1:p.Ile505HisfsTer7
NM_001367245.1:c.1509_1510del NP_001354174.1:p.Ile504HisfsTer7
NM_001367246.1:c.1326_1327del NP_001354175.1:p.Ile443HisfsTer7
NM_001367247.1:c.1512_1513del NP_001354176.1:p.Ile505HisfsTer7
NM_001367248.1:c.1542_1543del NP_001354177.1:p.Ile515HisfsTer7
NM_001367249.1:c.1509_1510del NP_001354178.1:p.Ile504HisfsTer7
NM_001367250.1:c.1509_1510del NP_001354179.1:p.Ile504HisfsTer7
NM_001367251.1:c.1326_1327del NP_001354180.1:p.Ile443HisfsTer7
NR_159803.1:n.1874_1875del
NR_159804.1:n.1588_1589del
NR_159805.1:n.1654_1655del
NR_159806.1:n.1654_1655del
NR_159807.1:n.1562_1563del
NR_159808.1:n.1766_1767del
ENST00000318842.11:c.1512_1513del ENSP00000322219.6:p.Ile505HisfsTer7
ENST00000339363.7:c.1512_1513del ENSP00000343671.3:p.Ile505HisfsTer7
ENST00000378505.6:c.1512_1513del ENSP00000367766.2:p.Ile505HisfsTer7
ENST00000465127.1:c.172-375098_172-375097del ENSP00000417050.1:n.172-375098_172-375097del
ENST00000474584.5:c.1420_1421del ENSP00000418926.1:p.His474SerfsTer2
ENST00000482855.5:c.1512_1513del ENSP00000419276.1:p.Ile505HisfsTer7
ENST00000494707.5:c.79_80del
ENST00000494707.6:c.716_717del
ENST00000642170.1:n.1766_1767del
ENST00000642395.2:c.1512_1513del ENSP00000493468.2:p.Ile505HisfsTer7
ENST00000642739.1:c.1512_1513del ENSP00000493596.1:p.Ile505HisfsTer7
ENST00000644238.1:c.1326_1327del ENSP00000496728.1:p.Ile443HisfsTer7
ENST00000644337.1:c.1326_1327del ENSP00000494557.1:p.Ile443HisfsTer7
ENST00000645124.1:c.1512_1513del ENSP00000496446.1:p.Ile505HisfsTer7
ENST00000646020.1:c.*205_*206del ENSP00000494745.1:n.*205_*206del
XM_005272633.1:c.1512_1513del XP_005272690.1:p.Ile505HisfsTer7
XM_005272633.3:c.1512_1513del XP_005272690.1:p.Ile505HisfsTer7
XM_011543940.1:c.1509_1510del XP_011542242.1:p.Ile504HisfsTer7
XM_011543940.3:c.1509_1510del XP_011542242.1:p.Ile504HisfsTer7
XM_017029712.2:c.1509_1510del XP_016885201.1:p.Ile504HisfsTer7