Canonical Allele Identifier: CA10385235

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1199928
• ClinVar RCV Id: RCV001564776
• dbSNP Id: rs753744103
• ExAC: X:38145348 CTCT / C
• gnomAD v2: X-38145348-CTCT-C
• gnomAD v3: X-38286095-CTCT-C
• gnomAD v4: X-38286095-CTCT-C
• MyVariant Identifiers: chrX:g.38145349_38145351del (hg19) ; chrX:g.38286097_38286099del (hg38) ; chrX:g.38286096_38286098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286098_38286100del , CM000685.2:g.38286098_38286100del	GRCh38
NC_000023.10:g.38145351_38145353del , CM000685.1:g.38145351_38145353del	GRCh37
NC_000023.9:g.38030295_38030297del	NCBI36
NG_009553.1:g.46438_46440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1767_953+1769del
ENST00000642170.1:n.1826+4861_1826+4863del
ENST00000642395.2:c.1905+996_1905+998del	ENSP00000493468.2:n.1905+996_1905+998del
ENST00000642739.1:c.1572+4861_1572+4863del	ENSP00000493596.1:n.1572+4861_1572+4863del
ENST00000644238.1:c.1386+4861_1386+4863del	ENSP00000496728.1:n.1386+4861_1386+4863del
ENST00000644337.1:c.1719+996_1719+998del	ENSP00000494557.1:n.1719+996_1719+998del
ENST00000645032.1:c.2901_2903del MANE Select	ENSP00000495537.1:p.Glu968del
ENST00000645124.1:c.*101+996_*101+998del	ENSP00000496446.1:n.*101+996_*101+998del
ENST00000646020.1:c.*594+996_*594+998del	ENSP00000494745.1:n.*594+996_*594+998del
ENST00000318842.11:c.1905+996_1905+998del	ENSP00000322219.6:n.1905+996_1905+998del
ENST00000339363.7:c.2520+996_2520+998del	ENSP00000343671.3:n.2520+996_2520+998del
ENST00000378505.6:c.2901_2903del	ENSP00000367766.2:p.Glu968del
ENST00000465127.1:c.172-380023_172-380021del	ENSP00000417050.1:n.172-380023_172-380021del
ENST00000474584.5:c.*37+4861_*37+4863del	ENSP00000418926.1:n.*37+4861_*37+4863del
ENST00000482855.5:c.1905+996_1905+998del	ENSP00000419276.1:n.1905+996_1905+998del
ENST00000494707.5:c.139+4861_139+4863del
NM_000328.2:c.1905+996_1905+998del	NP_000319.1:n.1905+996_1905+998del
NM_001034853.1:c.2901_2903del	NP_001030025.1:p.Glu968del
XM_005272633.1:c.1572+4861_1572+4863del	XP_005272690.1:n.1572+4861_1572+4863del
XM_011543940.1:c.1902+996_1902+998del	XP_011542242.1:n.1902+996_1902+998del
XM_005272633.3:c.1572+4861_1572+4863del	XP_005272690.1:n.1572+4861_1572+4863del
XM_011543940.3:c.1902+996_1902+998del	XP_011542242.1:n.1902+996_1902+998del
XM_017029712.2:c.1569+4861_1569+4863del	XP_016885201.1:n.1569+4861_1569+4863del
NM_001367245.1:c.1902+996_1902+998del	NP_001354174.1:n.1902+996_1902+998del
NM_001367246.1:c.1719+996_1719+998del	NP_001354175.1:n.1719+996_1719+998del
NM_001367247.1:c.1572+4861_1572+4863del	NP_001354176.1:n.1572+4861_1572+4863del
NM_001367248.1:c.1602+4861_1602+4863del	NP_001354177.1:n.1602+4861_1602+4863del
NM_001367249.1:c.1569+4861_1569+4863del	NP_001354178.1:n.1569+4861_1569+4863del
NM_001367250.1:c.1569+4861_1569+4863del	NP_001354179.1:n.1569+4861_1569+4863del
NM_001367251.1:c.1386+4861_1386+4863del	NP_001354180.1:n.1386+4861_1386+4863del
NR_159803.1:n.2263+996_2263+998del
NR_159804.1:n.1648+4861_1648+4863del
NR_159805.1:n.1714+4861_1714+4863del
NR_159806.1:n.1866+996_1866+998del
NR_159807.1:n.1622+4861_1622+4863del
NR_159808.1:n.1826+4861_1826+4863del
NM_000328.3:c.1905+996_1905+998del	NP_000319.1:n.1905+996_1905+998del
NM_001034853.2:c.2901_2903del MANE Select	NP_001030025.1:p.Glu968del