Canonical Allele Identifier: CA2424848798

Gene: RPGR

Linked Data

• ClinVar Variation Id: 975132
• ClinVar RCV Id: RCV001251554 ; RCV001543446 ; RCV003538637
• dbSNP Id: rs2067448565

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38298986_38298987del , CM000685.2:g.38298986_38298987del	GRCh38
NC_000023.10:g.38158239_38158240del , CM000685.1:g.38158239_38158240del	GRCh37
NC_000023.9:g.38043183_38043184del	NCBI36
NG_009553.1:g.33551_33552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.420_421del
ENST00000642170.1:n.1470_1471del
ENST00000642395.2:c.1216_1217del	ENSP00000493468.2:p.Leu406IlefsTer?
ENST00000642558.1:c.1123_1124del	ENSP00000496427.1:p.Leu375IlefsTer?
ENST00000642739.1:c.1216_1217del	ENSP00000493596.1:p.Leu406IlefsTer?
ENST00000644238.1:c.1060-1533_1060-1532del	ENSP00000496728.1:n.1060-1533_1060-1532del
ENST00000644337.1:c.1060-1533_1060-1532del	ENSP00000494557.1:n.1060-1533_1060-1532del
ENST00000645032.1:c.1216_1217del MANE Select	ENSP00000495537.1:p.Leu406IlefsTer?
ENST00000645124.1:c.1216_1217del	ENSP00000496446.1:p.Leu406IlefsTer?
ENST00000646020.1:c.1276_1277del	ENSP00000494745.1:p.Leu426IlefsTer?
ENST00000318842.11:c.1216_1217del	ENSP00000322219.6:p.Leu406IlefsTer?
ENST00000339363.7:c.1216_1217del	ENSP00000343671.3:p.Leu406IlefsTer?
ENST00000378505.6:c.1216_1217del	ENSP00000367766.2:p.Leu406IlefsTer?
ENST00000464437.1:c.282_283del
ENST00000465127.1:c.172-367135_172-367134del	ENSP00000417050.1:n.172-367135_172-367134del
ENST00000474584.5:c.1216_1217del	ENSP00000418926.1:p.Leu406IlefsTer?
ENST00000482855.5:c.1216_1217del	ENSP00000419276.1:p.Leu406IlefsTer?
ENST00000494841.1:n.479_480del
NM_000328.2:c.1216_1217del	NP_000319.1:p.Leu406IlefsTer?
NM_001034853.1:c.1216_1217del	NP_001030025.1:p.Leu406IlefsTer?
XM_005272633.1:c.1216_1217del	XP_005272690.1:p.Leu406IlefsTer?
XM_011543940.1:c.1213_1214del	XP_011542242.1:p.Leu405IlefsTer?
XM_005272633.3:c.1216_1217del	XP_005272690.1:p.Leu406IlefsTer?
XM_011543940.3:c.1213_1214del	XP_011542242.1:p.Leu405IlefsTer?
XM_017029712.2:c.1213_1214del	XP_016885201.1:p.Leu405IlefsTer?
NM_001367245.1:c.1213_1214del	NP_001354174.1:p.Leu405IlefsTer?
NM_001367246.1:c.1060-1533_1060-1532del	NP_001354175.1:n.1060-1533_1060-1532del
NM_001367247.1:c.1216_1217del	NP_001354176.1:p.Leu406IlefsTer?
NM_001367248.1:c.1246_1247del	NP_001354177.1:p.Leu416IlefsTer?
NM_001367249.1:c.1213_1214del	NP_001354178.1:p.Leu405IlefsTer?
NM_001367250.1:c.1213_1214del	NP_001354179.1:p.Leu405IlefsTer?
NM_001367251.1:c.1060-1533_1060-1532del	NP_001354180.1:n.1060-1533_1060-1532del
NR_159803.1:n.1418_1419del
NR_159804.1:n.1267_1268del
NR_159805.1:n.1358_1359del
NR_159806.1:n.1358_1359del
NR_159807.1:n.1358_1359del
NR_159808.1:n.1470_1471del
NM_000328.3:c.1216_1217del	NP_000319.1:p.Leu406IlefsTer?
NM_001034853.2:c.1216_1217del MANE Select	NP_001030025.1:p.Leu406IlefsTer?