Canonical Allele Identifier: CA412729549

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1802305
• ClinVar RCV Id: RCV002465118 ; RCV002571383
• dbSNP Id: rs1285073212
• gnomAD v2: X-38145369-TTCC-T
• gnomAD v3: X-38286116-TTCC-T
• gnomAD v4: X-38286116-TTCC-T
• MyVariant Identifiers: chrX:g.38145370_38145372del (hg19) ; chrX:g.38286118_38286120del (hg38) ; chrX:g.38286117_38286119del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286122_38286124del , CM000685.2:g.38286122_38286124del	GRCh38
NC_000023.10:g.38145375_38145377del , CM000685.1:g.38145375_38145377del	GRCh37
NC_000023.9:g.38030319_38030321del	NCBI36
NG_009553.1:g.46417_46419del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1746_953+1748del
ENST00000642170.1:n.1826+4840_1826+4842del
ENST00000642395.2:c.1905+975_1905+977del	ENSP00000493468.2:n.1905+975_1905+977del
ENST00000642739.1:c.1572+4840_1572+4842del	ENSP00000493596.1:n.1572+4840_1572+4842de...
ENST00000644238.1:c.1386+4840_1386+4842del	ENSP00000496728.1:n.1386+4840_1386+4842de...
ENST00000644337.1:c.1719+975_1719+977del	ENSP00000494557.1:n.1719+975_1719+977del
ENST00000645032.1:c.2880_2882del MANE Select	ENSP00000495537.1:p.Glu961del
ENST00000645124.1:c.*101+975_*101+977del	ENSP00000496446.1:n.*101+975_*101+977del
ENST00000646020.1:c.*594+975_*594+977del	ENSP00000494745.1:n.*594+975_*594+977del
ENST00000318842.11:c.1905+975_1905+977del	ENSP00000322219.6:n.1905+975_1905+977del
ENST00000339363.7:c.2520+975_2520+977del	ENSP00000343671.3:n.2520+975_2520+977del
ENST00000378505.6:c.2880_2882del	ENSP00000367766.2:p.Glu961del
ENST00000465127.1:c.172-379999_172-379997del	ENSP00000417050.1:n.172-379999_172-379997...
ENST00000474584.5:c.*37+4840_*37+4842del	ENSP00000418926.1:n.*37+4840_*37+4842del
ENST00000482855.5:c.1905+975_1905+977del	ENSP00000419276.1:n.1905+975_1905+977del
ENST00000494707.5:c.139+4840_139+4842del
NM_000328.2:c.1905+975_1905+977del	NP_000319.1:n.1905+975_1905+977del
NM_001034853.1:c.2880_2882del	NP_001030025.1:p.Glu961del
XM_005272633.1:c.1572+4840_1572+4842del	XP_005272690.1:n.1572+4840_1572+4842del
XM_011543940.1:c.1902+975_1902+977del	XP_011542242.1:n.1902+975_1902+977del
XM_005272633.3:c.1572+4840_1572+4842del	XP_005272690.1:n.1572+4840_1572+4842del
XM_011543940.3:c.1902+975_1902+977del	XP_011542242.1:n.1902+975_1902+977del
XM_017029712.2:c.1569+4840_1569+4842del	XP_016885201.1:n.1569+4840_1569+4842del
NM_001367245.1:c.1902+975_1902+977del	NP_001354174.1:n.1902+975_1902+977del
NM_001367246.1:c.1719+975_1719+977del	NP_001354175.1:n.1719+975_1719+977del
NM_001367247.1:c.1572+4840_1572+4842del	NP_001354176.1:n.1572+4840_1572+4842del
NM_001367248.1:c.1602+4840_1602+4842del	NP_001354177.1:n.1602+4840_1602+4842del
NM_001367249.1:c.1569+4840_1569+4842del	NP_001354178.1:n.1569+4840_1569+4842del
NM_001367250.1:c.1569+4840_1569+4842del	NP_001354179.1:n.1569+4840_1569+4842del
NM_001367251.1:c.1386+4840_1386+4842del	NP_001354180.1:n.1386+4840_1386+4842del
NR_159803.1:n.2263+975_2263+977del
NR_159804.1:n.1648+4840_1648+4842del
NR_159805.1:n.1714+4840_1714+4842del
NR_159806.1:n.1866+975_1866+977del
NR_159807.1:n.1622+4840_1622+4842del
NR_159808.1:n.1826+4840_1826+4842del
NM_000328.3:c.1905+975_1905+977del	NP_000319.1:n.1905+975_1905+977del
NM_001034853.2:c.2880_2882del MANE Select	NP_001030025.1:p.Glu961del