Canonical Allele Identifier: CA916083892

Gene: RPGR

Linked Data

• ClinVar Variation Id: 866765
• ClinVar RCV Id: RCV001075056 ; RCV001251618 ; RCV002464378 ; RCV002554739
• dbSNP Id: rs2067169934

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286399_38286400del , CM000685.2:g.38286399_38286400del	GRCh38
NC_000023.10:g.38145652_38145653del , CM000685.1:g.38145652_38145653del	GRCh37
NC_000023.9:g.38030596_38030597del	NCBI36
NG_009553.1:g.46138_46139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1467_953+1468del
ENST00000642170.1:n.1826+4561_1826+4562del
ENST00000642395.2:c.1905+696_1905+697del	ENSP00000493468.2:n.1905+696_1905+697del
ENST00000642739.1:c.1572+4561_1572+4562del	ENSP00000493596.1:n.1572+4561_1572+4562del
ENST00000644238.1:c.1386+4561_1386+4562del	ENSP00000496728.1:n.1386+4561_1386+4562del
ENST00000644337.1:c.1719+696_1719+697del	ENSP00000494557.1:n.1719+696_1719+697del
ENST00000645032.1:c.2601_2602del MANE Select	ENSP00000495537.1:p.Glu868GlyfsTer?
ENST00000645124.1:c.*101+696_*101+697del	ENSP00000496446.1:n.*101+696_*101+697del
ENST00000646020.1:c.*594+696_*594+697del	ENSP00000494745.1:n.*594+696_*594+697del
ENST00000318842.11:c.1905+696_1905+697del	ENSP00000322219.6:n.1905+696_1905+697del
ENST00000339363.7:c.2520+696_2520+697del	ENSP00000343671.3:n.2520+696_2520+697del
ENST00000378505.6:c.2601_2602del	ENSP00000367766.2:p.Glu868GlyfsTer?
ENST00000465127.1:c.172-379722_172-379721del	ENSP00000417050.1:n.172-379722_172-379721del
ENST00000474584.5:c.*37+4561_*37+4562del	ENSP00000418926.1:n.*37+4561_*37+4562del
ENST00000482855.5:c.1905+696_1905+697del	ENSP00000419276.1:n.1905+696_1905+697del
ENST00000494707.5:c.139+4561_139+4562del
NM_000328.2:c.1905+696_1905+697del	NP_000319.1:n.1905+696_1905+697del
NM_001034853.1:c.2601_2602del	NP_001030025.1:p.Glu868GlyfsTer?
XM_005272633.1:c.1572+4561_1572+4562del	XP_005272690.1:n.1572+4561_1572+4562del
XM_011543940.1:c.1902+696_1902+697del	XP_011542242.1:n.1902+696_1902+697del
XM_005272633.3:c.1572+4561_1572+4562del	XP_005272690.1:n.1572+4561_1572+4562del
XM_011543940.3:c.1902+696_1902+697del	XP_011542242.1:n.1902+696_1902+697del
XM_017029712.2:c.1569+4561_1569+4562del	XP_016885201.1:n.1569+4561_1569+4562del
NM_001367245.1:c.1902+696_1902+697del	NP_001354174.1:n.1902+696_1902+697del
NM_001367246.1:c.1719+696_1719+697del	NP_001354175.1:n.1719+696_1719+697del
NM_001367247.1:c.1572+4561_1572+4562del	NP_001354176.1:n.1572+4561_1572+4562del
NM_001367248.1:c.1602+4561_1602+4562del	NP_001354177.1:n.1602+4561_1602+4562del
NM_001367249.1:c.1569+4561_1569+4562del	NP_001354178.1:n.1569+4561_1569+4562del
NM_001367250.1:c.1569+4561_1569+4562del	NP_001354179.1:n.1569+4561_1569+4562del
NM_001367251.1:c.1386+4561_1386+4562del	NP_001354180.1:n.1386+4561_1386+4562del
NR_159803.1:n.2263+696_2263+697del
NR_159804.1:n.1648+4561_1648+4562del
NR_159805.1:n.1714+4561_1714+4562del
NR_159806.1:n.1866+696_1866+697del
NR_159807.1:n.1622+4561_1622+4562del
NR_159808.1:n.1826+4561_1826+4562del
NM_000328.3:c.1905+696_1905+697del	NP_000319.1:n.1905+696_1905+697del
NM_001034853.2:c.2601_2602del MANE Select	NP_001030025.1:p.Glu868GlyfsTer?