Canonical Allele Identifier: CA1139667404

Gene: RPGR

Linked Data

• ClinVar Variation Id: 813093
• ClinVar RCV Id: RCV001199545
• dbSNP Id: rs2067126569

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285951_38286385del , CM000685.2:g.38285951_38286385del	GRCh38
NC_000023.10:g.38145204_38145638del , CM000685.1:g.38145204_38145638del	GRCh37
NC_000023.9:g.38030148_38030582del	NCBI36
NG_009553.1:g.46159_46593del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1488_953+1922del
ENST00000642170.1:n.1826+4582_1826+5016del
ENST00000642395.2:c.1905+717_1905+1151del	ENSP00000493468.2:n.1905+717_1905+1151del...
ENST00000642739.1:c.1572+4582_1572+5016del	ENSP00000493596.1:n.1572+4582_1572+5016de...
ENST00000644238.1:c.1386+4582_1386+5016del	ENSP00000496728.1:n.1386+4582_1386+5016de...
ENST00000644337.1:c.1719+717_1719+1151del	ENSP00000494557.1:n.1719+717_1719+1151del...
ENST00000645032.1:c.2622_3056del MANE Select	ENSP00000495537.1:p.Glu875_Gly1019del
ENST00000645124.1:c.*101+717_*101+1151del	ENSP00000496446.1:n.*101+717_*101+1151del...
ENST00000646020.1:c.*594+717_*594+1151del	ENSP00000494745.1:n.*594+717_*594+1151del...
ENST00000318842.11:c.1905+717_1905+1151del	ENSP00000322219.6:n.1905+717_1905+1151del...
ENST00000339363.7:c.2520+717_2520+1151del	ENSP00000343671.3:n.2520+717_2520+1151del...
ENST00000378505.6:c.2622_3056del	ENSP00000367766.2:p.Glu875_Gly1019del
ENST00000465127.1:c.172-380170_172-379736del	ENSP00000417050.1:n.172-380170_172-379736...
ENST00000474584.5:c.*37+4582_*37+5016del	ENSP00000418926.1:n.*37+4582_*37+5016del
ENST00000482855.5:c.1905+717_1905+1151del	ENSP00000419276.1:n.1905+717_1905+1151del...
ENST00000494707.5:c.139+4582_139+5016del
NM_000328.2:c.1905+717_1905+1151del	NP_000319.1:n.1905+717_1905+1151del
NM_001034853.1:c.2622_3056del	NP_001030025.1:p.Glu875_Gly1019del
XM_005272633.1:c.1572+4582_1572+5016del	XP_005272690.1:n.1572+4582_1572+5016del
XM_011543940.1:c.1902+717_1902+1151del	XP_011542242.1:n.1902+717_1902+1151del
XM_005272633.3:c.1572+4582_1572+5016del	XP_005272690.1:n.1572+4582_1572+5016del
XM_011543940.3:c.1902+717_1902+1151del	XP_011542242.1:n.1902+717_1902+1151del
XM_017029712.2:c.1569+4582_1569+5016del	XP_016885201.1:n.1569+4582_1569+5016del
NM_001367245.1:c.1902+717_1902+1151del	NP_001354174.1:n.1902+717_1902+1151del
NM_001367246.1:c.1719+717_1719+1151del	NP_001354175.1:n.1719+717_1719+1151del
NM_001367247.1:c.1572+4582_1572+5016del	NP_001354176.1:n.1572+4582_1572+5016del
NM_001367248.1:c.1602+4582_1602+5016del	NP_001354177.1:n.1602+4582_1602+5016del
NM_001367249.1:c.1569+4582_1569+5016del	NP_001354178.1:n.1569+4582_1569+5016del
NM_001367250.1:c.1569+4582_1569+5016del	NP_001354179.1:n.1569+4582_1569+5016del
NM_001367251.1:c.1386+4582_1386+5016del	NP_001354180.1:n.1386+4582_1386+5016del
NR_159803.1:n.2263+717_2263+1151del
NR_159804.1:n.1648+4582_1648+5016del
NR_159805.1:n.1714+4582_1714+5016del
NR_159806.1:n.1866+717_1866+1151del
NR_159807.1:n.1622+4582_1622+5016del
NR_159808.1:n.1826+4582_1826+5016del
NM_000328.3:c.1905+717_1905+1151del	NP_000319.1:n.1905+717_1905+1151del
NM_001034853.2:c.2622_3056del MANE Select	NP_001030025.1:p.Glu875_Gly1019del