Canonical Allele Identifier: CA10385248

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1502798
• ClinVar RCV Id: RCV002464508 ; RCV002022510
• dbSNP Id: rs751721873
• ExAC: X:38145504 TTCC / T
• gnomAD v2: X-38145504-TTCC-T
• gnomAD v3: X-38286251-TTCC-T
• gnomAD v4: X-38286251-TTCC-T
• COSMIC: COSM1625873
• MyVariant Identifiers: chrX:g.38145505_38145507del (hg19) ; chrX:g.38286253_38286255del (hg38) ; chrX:g.38286252_38286254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286257_38286259del , CM000685.2:g.38286257_38286259del	GRCh38
NC_000023.10:g.38145510_38145512del , CM000685.1:g.38145510_38145512del	GRCh37
NC_000023.9:g.38030454_38030456del	NCBI36
NG_009553.1:g.46282_46284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1611_953+1613del
ENST00000642170.1:n.1826+4705_1826+4707del
ENST00000642395.2:c.1905+840_1905+842del	ENSP00000493468.2:n.1905+840_1905+842del
ENST00000642739.1:c.1572+4705_1572+4707del	ENSP00000493596.1:n.1572+4705_1572+4707del
ENST00000644238.1:c.1386+4705_1386+4707del	ENSP00000496728.1:n.1386+4705_1386+4707del
ENST00000644337.1:c.1719+840_1719+842del	ENSP00000494557.1:n.1719+840_1719+842del
ENST00000645032.1:c.2745_2747del MANE Select	ENSP00000495537.1:p.Glu916del
ENST00000645124.1:c.*101+840_*101+842del	ENSP00000496446.1:n.*101+840_*101+842del
ENST00000646020.1:c.*594+840_*594+842del	ENSP00000494745.1:n.*594+840_*594+842del
ENST00000318842.11:c.1905+840_1905+842del	ENSP00000322219.6:n.1905+840_1905+842del
ENST00000339363.7:c.2520+840_2520+842del	ENSP00000343671.3:n.2520+840_2520+842del
ENST00000378505.6:c.2745_2747del	ENSP00000367766.2:p.Glu916del
ENST00000465127.1:c.172-379864_172-379862del	ENSP00000417050.1:n.172-379864_172-379862del
ENST00000474584.5:c.*37+4705_*37+4707del	ENSP00000418926.1:n.*37+4705_*37+4707del
ENST00000482855.5:c.1905+840_1905+842del	ENSP00000419276.1:n.1905+840_1905+842del
ENST00000494707.5:c.139+4705_139+4707del
NM_000328.2:c.1905+840_1905+842del	NP_000319.1:n.1905+840_1905+842del
NM_001034853.1:c.2745_2747del	NP_001030025.1:p.Glu916del
XM_005272633.1:c.1572+4705_1572+4707del	XP_005272690.1:n.1572+4705_1572+4707del
XM_011543940.1:c.1902+840_1902+842del	XP_011542242.1:n.1902+840_1902+842del
XM_005272633.3:c.1572+4705_1572+4707del	XP_005272690.1:n.1572+4705_1572+4707del
XM_011543940.3:c.1902+840_1902+842del	XP_011542242.1:n.1902+840_1902+842del
XM_017029712.2:c.1569+4705_1569+4707del	XP_016885201.1:n.1569+4705_1569+4707del
NM_001367245.1:c.1902+840_1902+842del	NP_001354174.1:n.1902+840_1902+842del
NM_001367246.1:c.1719+840_1719+842del	NP_001354175.1:n.1719+840_1719+842del
NM_001367247.1:c.1572+4705_1572+4707del	NP_001354176.1:n.1572+4705_1572+4707del
NM_001367248.1:c.1602+4705_1602+4707del	NP_001354177.1:n.1602+4705_1602+4707del
NM_001367249.1:c.1569+4705_1569+4707del	NP_001354178.1:n.1569+4705_1569+4707del
NM_001367250.1:c.1569+4705_1569+4707del	NP_001354179.1:n.1569+4705_1569+4707del
NM_001367251.1:c.1386+4705_1386+4707del	NP_001354180.1:n.1386+4705_1386+4707del
NR_159803.1:n.2263+840_2263+842del
NR_159804.1:n.1648+4705_1648+4707del
NR_159805.1:n.1714+4705_1714+4707del
NR_159806.1:n.1866+840_1866+842del
NR_159807.1:n.1622+4705_1622+4707del
NR_159808.1:n.1826+4705_1826+4707del
NM_000328.3:c.1905+840_1905+842del	NP_000319.1:n.1905+840_1905+842del
NM_001034853.2:c.2745_2747del MANE Select	NP_001030025.1:p.Glu916del