Canonical Allele Identifier: CA1132420052

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2057480
• ClinVar RCV Id: RCV002923384
• dbSNP Id: rs2067152361
• gnomAD v3: X-38286188-TCCTTCCTCCTCTTCCCCCTCC-T
• gnomAD v4: X-38286188-TCCTTCCTCCTCTTCCCCCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286194_38286214del , CM000685.2:g.38286194_38286214del	GRCh38
NC_000023.10:g.38145447_38145467del , CM000685.1:g.38145447_38145467del	GRCh37
NC_000023.9:g.38030391_38030411del	NCBI36
NG_009553.1:g.46327_46347del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1656_953+1676del
ENST00000642170.1:n.1826+4750_1826+4770del
ENST00000642395.2:c.1905+885_1905+905del	ENSP00000493468.2:n.1905+885_1905+905del
ENST00000642739.1:c.1572+4750_1572+4770del	ENSP00000493596.1:n.1572+4750_1572+4770de...
ENST00000644238.1:c.1386+4750_1386+4770del	ENSP00000496728.1:n.1386+4750_1386+4770de...
ENST00000644337.1:c.1719+885_1719+905del	ENSP00000494557.1:n.1719+885_1719+905del
ENST00000645032.1:c.2790_2810del MANE Select	ENSP00000495537.1:p.Glu931_Gly937del
ENST00000645124.1:c.*101+885_*101+905del	ENSP00000496446.1:n.*101+885_*101+905del
ENST00000646020.1:c.*594+885_*594+905del	ENSP00000494745.1:n.*594+885_*594+905del
ENST00000318842.11:c.1905+885_1905+905del	ENSP00000322219.6:n.1905+885_1905+905del
ENST00000339363.7:c.2520+885_2520+905del	ENSP00000343671.3:n.2520+885_2520+905del
ENST00000378505.6:c.2790_2810del	ENSP00000367766.2:p.Glu931_Gly937del
ENST00000465127.1:c.172-379927_172-379907del	ENSP00000417050.1:n.172-379927_172-379907...
ENST00000474584.5:c.*37+4750_*37+4770del	ENSP00000418926.1:n.*37+4750_*37+4770del
ENST00000482855.5:c.1905+885_1905+905del	ENSP00000419276.1:n.1905+885_1905+905del
ENST00000494707.5:c.139+4750_139+4770del
NM_000328.2:c.1905+885_1905+905del	NP_000319.1:n.1905+885_1905+905del
NM_001034853.1:c.2790_2810del	NP_001030025.1:p.Glu931_Gly937del
XM_005272633.1:c.1572+4750_1572+4770del	XP_005272690.1:n.1572+4750_1572+4770del
XM_011543940.1:c.1902+885_1902+905del	XP_011542242.1:n.1902+885_1902+905del
XM_005272633.3:c.1572+4750_1572+4770del	XP_005272690.1:n.1572+4750_1572+4770del
XM_011543940.3:c.1902+885_1902+905del	XP_011542242.1:n.1902+885_1902+905del
XM_017029712.2:c.1569+4750_1569+4770del	XP_016885201.1:n.1569+4750_1569+4770del
NM_001367245.1:c.1902+885_1902+905del	NP_001354174.1:n.1902+885_1902+905del
NM_001367246.1:c.1719+885_1719+905del	NP_001354175.1:n.1719+885_1719+905del
NM_001367247.1:c.1572+4750_1572+4770del	NP_001354176.1:n.1572+4750_1572+4770del
NM_001367248.1:c.1602+4750_1602+4770del	NP_001354177.1:n.1602+4750_1602+4770del
NM_001367249.1:c.1569+4750_1569+4770del	NP_001354178.1:n.1569+4750_1569+4770del
NM_001367250.1:c.1569+4750_1569+4770del	NP_001354179.1:n.1569+4750_1569+4770del
NM_001367251.1:c.1386+4750_1386+4770del	NP_001354180.1:n.1386+4750_1386+4770del
NR_159803.1:n.2263+885_2263+905del
NR_159804.1:n.1648+4750_1648+4770del
NR_159805.1:n.1714+4750_1714+4770del
NR_159806.1:n.1866+885_1866+905del
NR_159807.1:n.1622+4750_1622+4770del
NR_159808.1:n.1826+4750_1826+4770del
NM_000328.3:c.1905+885_1905+905del	NP_000319.1:n.1905+885_1905+905del
NM_001034853.2:c.2790_2810del MANE Select	NP_001030025.1:p.Glu931_Gly937del