Canonical Allele Identifier: CA640956461

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1985617
• ClinVar RCV Id: RCV002780882
• dbSNP Id: rs1281257509
• gnomAD v2: X-38145682-T-TC
• gnomAD v3: X-38286429-T-TC
• gnomAD v4: X-38286429-T-TC
• MyVariant Identifiers: chrX:g.38145682_38145683insC (hg19) ; chrX:g.38286429_38286430insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286429_38286430insC , CM000685.2:g.38286429_38286430insC	GRCh38
NC_000023.10:g.38145682_38145683insC , CM000685.1:g.38145682_38145683insC	GRCh37
NC_000023.9:g.38030626_38030627insC	NCBI36
NG_009553.1:g.46106_46107insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1435_953+1436insG
ENST00000642170.1:n.1826+4529_1826+4530insG
ENST00000642395.2:c.1905+664_1905+665insG	ENSP00000493468.2:n.1905+664_1905+665insG
ENST00000642739.1:c.1572+4529_1572+4530insG	ENSP00000493596.1:n.1572+4529_1572+4530insG
ENST00000644238.1:c.1386+4529_1386+4530insG	ENSP00000496728.1:n.1386+4529_1386+4530insG
ENST00000644337.1:c.1719+664_1719+665insG	ENSP00000494557.1:n.1719+664_1719+665insG
ENST00000645032.1:c.2569_2570insG MANE Select	ENSP00000495537.1:p.Lys857ArgfsTer?
ENST00000645124.1:c.*101+664_*101+665insG	ENSP00000496446.1:n.*101+664_*101+665insG
ENST00000646020.1:c.*594+664_*594+665insG	ENSP00000494745.1:n.*594+664_*594+665insG
ENST00000318842.11:c.1905+664_1905+665insG	ENSP00000322219.6:n.1905+664_1905+665insG
ENST00000339363.7:c.2520+664_2520+665insG	ENSP00000343671.3:n.2520+664_2520+665insG
ENST00000378505.6:c.2569_2570insG	ENSP00000367766.2:p.Lys857ArgfsTer?
ENST00000465127.1:c.172-379692_172-379691insC	ENSP00000417050.1:n.172-379692_172-379691insC
ENST00000474584.5:c.*37+4529_*37+4530insG	ENSP00000418926.1:n.*37+4529_*37+4530insG
ENST00000482855.5:c.1905+664_1905+665insG	ENSP00000419276.1:n.1905+664_1905+665insG
ENST00000494707.5:c.139+4529_139+4530insG
NM_000328.2:c.1905+664_1905+665insG	NP_000319.1:n.1905+664_1905+665insG
NM_001034853.1:c.2569_2570insG	NP_001030025.1:p.Lys857ArgfsTer?
XM_005272633.1:c.1572+4529_1572+4530insG	XP_005272690.1:n.1572+4529_1572+4530insG
XM_011543940.1:c.1902+664_1902+665insG	XP_011542242.1:n.1902+664_1902+665insG
XM_005272633.3:c.1572+4529_1572+4530insG	XP_005272690.1:n.1572+4529_1572+4530insG
XM_011543940.3:c.1902+664_1902+665insG	XP_011542242.1:n.1902+664_1902+665insG
XM_017029712.2:c.1569+4529_1569+4530insG	XP_016885201.1:n.1569+4529_1569+4530insG
NM_001367245.1:c.1902+664_1902+665insG	NP_001354174.1:n.1902+664_1902+665insG
NM_001367246.1:c.1719+664_1719+665insG	NP_001354175.1:n.1719+664_1719+665insG
NM_001367247.1:c.1572+4529_1572+4530insG	NP_001354176.1:n.1572+4529_1572+4530insG
NM_001367248.1:c.1602+4529_1602+4530insG	NP_001354177.1:n.1602+4529_1602+4530insG
NM_001367249.1:c.1569+4529_1569+4530insG	NP_001354178.1:n.1569+4529_1569+4530insG
NM_001367250.1:c.1569+4529_1569+4530insG	NP_001354179.1:n.1569+4529_1569+4530insG
NM_001367251.1:c.1386+4529_1386+4530insG	NP_001354180.1:n.1386+4529_1386+4530insG
NR_159803.1:n.2263+664_2263+665insG
NR_159804.1:n.1648+4529_1648+4530insG
NR_159805.1:n.1714+4529_1714+4530insG
NR_159806.1:n.1866+664_1866+665insG
NR_159807.1:n.1622+4529_1622+4530insG
NR_159808.1:n.1826+4529_1826+4530insG
NM_000328.3:c.1905+664_1905+665insG	NP_000319.1:n.1905+664_1905+665insG
NM_001034853.2:c.2569_2570insG MANE Select	NP_001030025.1:p.Lys857ArgfsTer?