Canonical Allele Identifier: CA2697553048

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2745166
• ClinVar RCV Id: RCV003535559

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286540_38286568del , CM000685.2:g.38286540_38286568del	GRCh38
NC_000023.10:g.38145793_38145821del , CM000685.1:g.38145793_38145821del	GRCh37
NC_000023.9:g.38030737_38030765del	NCBI36
NG_009553.1:g.45977_46005del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1306_953+1334del
ENST00000642170.1:n.1826+4400_1826+4428del
ENST00000642395.2:c.1905+535_1905+563del	ENSP00000493468.2:n.1905+535_1905+563del
ENST00000642739.1:c.1572+4400_1572+4428del	ENSP00000493596.1:n.1572+4400_1572+4428de...
ENST00000644238.1:c.1386+4400_1386+4428del	ENSP00000496728.1:n.1386+4400_1386+4428de...
ENST00000644337.1:c.1719+535_1719+563del	ENSP00000494557.1:n.1719+535_1719+563del
ENST00000645032.1:c.2440_2468del MANE Select	ENSP00000495537.1:p.Val814ArgfsTer11
ENST00000645124.1:c.*101+535_*101+563del	ENSP00000496446.1:n.*101+535_*101+563del
ENST00000646020.1:c.*594+535_*594+563del	ENSP00000494745.1:n.*594+535_*594+563del
ENST00000318842.11:c.1905+535_1905+563del	ENSP00000322219.6:n.1905+535_1905+563del
ENST00000339363.7:c.2520+535_2520+563del	ENSP00000343671.3:n.2520+535_2520+563del
ENST00000378505.6:c.2440_2468del	ENSP00000367766.2:p.Val814ArgfsTer11
ENST00000465127.1:c.172-379581_172-379553del	ENSP00000417050.1:n.172-379581_172-379553...
ENST00000474584.5:c.*37+4400_*37+4428del	ENSP00000418926.1:n.*37+4400_*37+4428del
ENST00000482855.5:c.1905+535_1905+563del	ENSP00000419276.1:n.1905+535_1905+563del
ENST00000494707.5:c.139+4400_139+4428del
NM_000328.2:c.1905+535_1905+563del	NP_000319.1:n.1905+535_1905+563del
NM_001034853.1:c.2440_2468del	NP_001030025.1:p.Val814ArgfsTer11
XM_005272633.1:c.1572+4400_1572+4428del	XP_005272690.1:n.1572+4400_1572+4428del
XM_011543940.1:c.1902+535_1902+563del	XP_011542242.1:n.1902+535_1902+563del
XM_005272633.3:c.1572+4400_1572+4428del	XP_005272690.1:n.1572+4400_1572+4428del
XM_011543940.3:c.1902+535_1902+563del	XP_011542242.1:n.1902+535_1902+563del
XM_017029712.2:c.1569+4400_1569+4428del	XP_016885201.1:n.1569+4400_1569+4428del
NM_001367245.1:c.1902+535_1902+563del	NP_001354174.1:n.1902+535_1902+563del
NM_001367246.1:c.1719+535_1719+563del	NP_001354175.1:n.1719+535_1719+563del
NM_001367247.1:c.1572+4400_1572+4428del	NP_001354176.1:n.1572+4400_1572+4428del
NM_001367248.1:c.1602+4400_1602+4428del	NP_001354177.1:n.1602+4400_1602+4428del
NM_001367249.1:c.1569+4400_1569+4428del	NP_001354178.1:n.1569+4400_1569+4428del
NM_001367250.1:c.1569+4400_1569+4428del	NP_001354179.1:n.1569+4400_1569+4428del
NM_001367251.1:c.1386+4400_1386+4428del	NP_001354180.1:n.1386+4400_1386+4428del
NR_159803.1:n.2263+535_2263+563del
NR_159804.1:n.1648+4400_1648+4428del
NR_159805.1:n.1714+4400_1714+4428del
NR_159806.1:n.1866+535_1866+563del
NR_159807.1:n.1622+4400_1622+4428del
NR_159808.1:n.1826+4400_1826+4428del
NM_000328.3:c.1905+535_1905+563del	NP_000319.1:n.1905+535_1905+563del
NM_001034853.2:c.2440_2468del MANE Select	NP_001030025.1:p.Val814ArgfsTer11