Canonical Allele Identifier: CA412729732

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1492006
• ClinVar RCV Id: RCV002010207 ; RCV002464504
• dbSNP Id: rs1238945219
• gnomAD v2: X-38145444-TTCC-T
• gnomAD v3: X-38286191-TTCC-T
• gnomAD v4: X-38286191-TTCC-T
• MyVariant Identifiers: chrX:g.38145445_38145447del (hg19) ; chrX:g.38286193_38286195del (hg38) ; chrX:g.38286192_38286194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286197_38286199del , CM000685.2:g.38286197_38286199del	GRCh38
NC_000023.10:g.38145450_38145452del , CM000685.1:g.38145450_38145452del	GRCh37
NC_000023.9:g.38030394_38030396del	NCBI36
NG_009553.1:g.46342_46344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1671_953+1673del
ENST00000642170.1:n.1826+4765_1826+4767del
ENST00000642395.2:c.1905+900_1905+902del	ENSP00000493468.2:n.1905+900_1905+902del
ENST00000642739.1:c.1572+4765_1572+4767del	ENSP00000493596.1:n.1572+4765_1572+4767del
ENST00000644238.1:c.1386+4765_1386+4767del	ENSP00000496728.1:n.1386+4765_1386+4767del
ENST00000644337.1:c.1719+900_1719+902del	ENSP00000494557.1:n.1719+900_1719+902del
ENST00000645032.1:c.2805_2807del MANE Select	ENSP00000495537.1:p.Glu936del
ENST00000645124.1:c.*101+900_*101+902del	ENSP00000496446.1:n.*101+900_*101+902del
ENST00000646020.1:c.*594+900_*594+902del	ENSP00000494745.1:n.*594+900_*594+902del
ENST00000318842.11:c.1905+900_1905+902del	ENSP00000322219.6:n.1905+900_1905+902del
ENST00000339363.7:c.2520+900_2520+902del	ENSP00000343671.3:n.2520+900_2520+902del
ENST00000378505.6:c.2805_2807del	ENSP00000367766.2:p.Glu936del
ENST00000465127.1:c.172-379924_172-379922del	ENSP00000417050.1:n.172-379924_172-379922del
ENST00000474584.5:c.*37+4765_*37+4767del	ENSP00000418926.1:n.*37+4765_*37+4767del
ENST00000482855.5:c.1905+900_1905+902del	ENSP00000419276.1:n.1905+900_1905+902del
ENST00000494707.5:c.139+4765_139+4767del
NM_000328.2:c.1905+900_1905+902del	NP_000319.1:n.1905+900_1905+902del
NM_001034853.1:c.2805_2807del	NP_001030025.1:p.Glu936del
XM_005272633.1:c.1572+4765_1572+4767del	XP_005272690.1:n.1572+4765_1572+4767del
XM_011543940.1:c.1902+900_1902+902del	XP_011542242.1:n.1902+900_1902+902del
XM_005272633.3:c.1572+4765_1572+4767del	XP_005272690.1:n.1572+4765_1572+4767del
XM_011543940.3:c.1902+900_1902+902del	XP_011542242.1:n.1902+900_1902+902del
XM_017029712.2:c.1569+4765_1569+4767del	XP_016885201.1:n.1569+4765_1569+4767del
NM_001367245.1:c.1902+900_1902+902del	NP_001354174.1:n.1902+900_1902+902del
NM_001367246.1:c.1719+900_1719+902del	NP_001354175.1:n.1719+900_1719+902del
NM_001367247.1:c.1572+4765_1572+4767del	NP_001354176.1:n.1572+4765_1572+4767del
NM_001367248.1:c.1602+4765_1602+4767del	NP_001354177.1:n.1602+4765_1602+4767del
NM_001367249.1:c.1569+4765_1569+4767del	NP_001354178.1:n.1569+4765_1569+4767del
NM_001367250.1:c.1569+4765_1569+4767del	NP_001354179.1:n.1569+4765_1569+4767del
NM_001367251.1:c.1386+4765_1386+4767del	NP_001354180.1:n.1386+4765_1386+4767del
NR_159803.1:n.2263+900_2263+902del
NR_159804.1:n.1648+4765_1648+4767del
NR_159805.1:n.1714+4765_1714+4767del
NR_159806.1:n.1866+900_1866+902del
NR_159807.1:n.1622+4765_1622+4767del
NR_159808.1:n.1826+4765_1826+4767del
NM_000328.3:c.1905+900_1905+902del	NP_000319.1:n.1905+900_1905+902del
NM_001034853.2:c.2805_2807del MANE Select	NP_001030025.1:p.Glu936del