Canonical Allele Identifier: CA10385230

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1575633
• ClinVar RCV Id: RCV002075299 ; RCV002464515 ; RCV003389509
• dbSNP Id: rs772859148
• ExAC: X:38145312 C / CTCCCCTTCTCCTTCCTCCCCT
• gnomAD v2: X-38145312-C-CTCCCCTTCTCCTTCCTCCCCT
• gnomAD v3: X-38286059-C-CTCCCCTTCTCCTTCCTCCCCT
• gnomAD v4: X-38286059-C-CTCCCCTTCTCCTTCCTCCCCT
• MyVariant Identifiers: chrX:g.38145333_38145334insTCCCCTTCTCCTTCCTCCCCT (hg19) ; chrX:g.38145312_38145313insTCCCCTTCTCCTTCCTCCCCT (hg19) ; chrX:g.38286059_38286060insTCCCCTTCTCCTTCCTCCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286077_38286097dup , CM000685.2:g.38286077_38286097dup	GRCh38
NC_000023.10:g.38145330_38145350dup , CM000685.1:g.38145330_38145350dup	GRCh37
NC_000023.9:g.38030274_38030294dup	NCBI36
NG_009553.1:g.46456_46476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1785_953+1805dup
ENST00000642170.1:n.1826+4879_1826+4899dup
ENST00000642395.2:c.1905+1014_1905+1034dup	ENSP00000493468.2:n.1905+1014_1905+1034dup
ENST00000642739.1:c.1572+4879_1572+4899dup	ENSP00000493596.1:n.1572+4879_1572+4899dup
ENST00000644238.1:c.1386+4879_1386+4899dup	ENSP00000496728.1:n.1386+4879_1386+4899dup
ENST00000644337.1:c.1719+1014_1719+1034dup	ENSP00000494557.1:n.1719+1014_1719+1034dup
ENST00000645032.1:c.2919_2939dup MANE Select	ENSP00000495537.1:p.Glu980_Gly981insGlyGluGluGlyGluGlyGlu
ENST00000645124.1:c.*101+1014_*101+1034dup	ENSP00000496446.1:n.*101+1014_*101+1034dup
ENST00000646020.1:c.*594+1014_*594+1034dup	ENSP00000494745.1:n.*594+1014_*594+1034dup
ENST00000318842.11:c.1905+1014_1905+1034dup	ENSP00000322219.6:n.1905+1014_1905+1034dup
ENST00000339363.7:c.2520+1014_2520+1034dup	ENSP00000343671.3:n.2520+1014_2520+1034dup
ENST00000378505.6:c.2919_2939dup	ENSP00000367766.2:p.Glu980_Gly981insGlyGluGluGlyGluGlyGlu
ENST00000465127.1:c.172-380044_172-380024dup	ENSP00000417050.1:n.172-380044_172-380024dup
ENST00000474584.5:c.*37+4879_*37+4899dup	ENSP00000418926.1:n.*37+4879_*37+4899dup
ENST00000482855.5:c.1905+1014_1905+1034dup	ENSP00000419276.1:n.1905+1014_1905+1034dup
ENST00000494707.5:c.139+4879_139+4899dup
NM_000328.2:c.1905+1014_1905+1034dup	NP_000319.1:n.1905+1014_1905+1034dup
NM_001034853.1:c.2919_2939dup	NP_001030025.1:p.Glu980_Gly981insGlyGluGluGlyGluGlyGlu
XM_005272633.1:c.1572+4879_1572+4899dup	XP_005272690.1:n.1572+4879_1572+4899dup
XM_011543940.1:c.1902+1014_1902+1034dup	XP_011542242.1:n.1902+1014_1902+1034dup
XM_005272633.3:c.1572+4879_1572+4899dup	XP_005272690.1:n.1572+4879_1572+4899dup
XM_011543940.3:c.1902+1014_1902+1034dup	XP_011542242.1:n.1902+1014_1902+1034dup
XM_017029712.2:c.1569+4879_1569+4899dup	XP_016885201.1:n.1569+4879_1569+4899dup
NM_001367245.1:c.1902+1014_1902+1034dup	NP_001354174.1:n.1902+1014_1902+1034dup
NM_001367246.1:c.1719+1014_1719+1034dup	NP_001354175.1:n.1719+1014_1719+1034dup
NM_001367247.1:c.1572+4879_1572+4899dup	NP_001354176.1:n.1572+4879_1572+4899dup
NM_001367248.1:c.1602+4879_1602+4899dup	NP_001354177.1:n.1602+4879_1602+4899dup
NM_001367249.1:c.1569+4879_1569+4899dup	NP_001354178.1:n.1569+4879_1569+4899dup
NM_001367250.1:c.1569+4879_1569+4899dup	NP_001354179.1:n.1569+4879_1569+4899dup
NM_001367251.1:c.1386+4879_1386+4899dup	NP_001354180.1:n.1386+4879_1386+4899dup
NR_159803.1:n.2263+1014_2263+1034dup
NR_159804.1:n.1648+4879_1648+4899dup
NR_159805.1:n.1714+4879_1714+4899dup
NR_159806.1:n.1866+1014_1866+1034dup
NR_159807.1:n.1622+4879_1622+4899dup
NR_159808.1:n.1826+4879_1826+4899dup
NM_000328.3:c.1905+1014_1905+1034dup	NP_000319.1:n.1905+1014_1905+1034dup
NM_001034853.2:c.2919_2939dup MANE Select	NP_001030025.1:p.Glu980_Gly981insGlyGluGluGlyGluGlyGlu