Canonical Allele Identifier: CA2580616969

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2138527
• ClinVar RCV Id: RCV003064697 ; RCV003126269

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285803_38285804del , CM000685.2:g.38285803_38285804del	GRCh38
NC_000023.10:g.38145056_38145057del , CM000685.1:g.38145056_38145057del	GRCh37
NC_000023.9:g.38030000_38030001del	NCBI36
NG_009553.1:g.46734_46735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+2063_953+2064del
ENST00000642170.1:n.1826+5157_1826+5158del
ENST00000642395.2:c.1905+1292_1905+1293del	ENSP00000493468.2:n.1905+1292_1905+1293del
ENST00000642739.1:c.1572+5157_1572+5158del	ENSP00000493596.1:n.1572+5157_1572+5158del
ENST00000644238.1:c.1386+5157_1386+5158del	ENSP00000496728.1:n.1386+5157_1386+5158del
ENST00000644337.1:c.1719+1292_1719+1293del	ENSP00000494557.1:n.1719+1292_1719+1293del
ENST00000645032.1:c.3197_3198del MANE Select	ENSP00000495537.1:p.Glu1066GlyfsTer12
ENST00000645124.1:c.*101+1292_*101+1293del	ENSP00000496446.1:n.*101+1292_*101+1293del
ENST00000646020.1:c.*594+1292_*594+1293del	ENSP00000494745.1:n.*594+1292_*594+1293del
ENST00000318842.11:c.1905+1292_1905+1293del	ENSP00000322219.6:n.1905+1292_1905+1293del
ENST00000339363.7:c.2520+1292_2520+1293del	ENSP00000343671.3:n.2520+1292_2520+1293del
ENST00000378505.6:c.3197_3198del	ENSP00000367766.2:p.Glu1066GlyfsTer12
ENST00000465127.1:c.172-380318_172-380317del	ENSP00000417050.1:n.172-380318_172-380317del
ENST00000474584.5:c.*37+5157_*37+5158del	ENSP00000418926.1:n.*37+5157_*37+5158del
ENST00000482855.5:c.1905+1292_1905+1293del	ENSP00000419276.1:n.1905+1292_1905+1293del
ENST00000494707.5:c.139+5157_139+5158del
NM_000328.2:c.1905+1292_1905+1293del	NP_000319.1:n.1905+1292_1905+1293del
NM_001034853.1:c.3197_3198del	NP_001030025.1:p.Glu1066GlyfsTer12
XM_005272633.1:c.1572+5157_1572+5158del	XP_005272690.1:n.1572+5157_1572+5158del
XM_011543940.1:c.1902+1292_1902+1293del	XP_011542242.1:n.1902+1292_1902+1293del
XM_005272633.3:c.1572+5157_1572+5158del	XP_005272690.1:n.1572+5157_1572+5158del
XM_011543940.3:c.1902+1292_1902+1293del	XP_011542242.1:n.1902+1292_1902+1293del
XM_017029712.2:c.1569+5157_1569+5158del	XP_016885201.1:n.1569+5157_1569+5158del
NM_001367245.1:c.1902+1292_1902+1293del	NP_001354174.1:n.1902+1292_1902+1293del
NM_001367246.1:c.1719+1292_1719+1293del	NP_001354175.1:n.1719+1292_1719+1293del
NM_001367247.1:c.1572+5157_1572+5158del	NP_001354176.1:n.1572+5157_1572+5158del
NM_001367248.1:c.1602+5157_1602+5158del	NP_001354177.1:n.1602+5157_1602+5158del
NM_001367249.1:c.1569+5157_1569+5158del	NP_001354178.1:n.1569+5157_1569+5158del
NM_001367250.1:c.1569+5157_1569+5158del	NP_001354179.1:n.1569+5157_1569+5158del
NM_001367251.1:c.1386+5157_1386+5158del	NP_001354180.1:n.1386+5157_1386+5158del
NR_159803.1:n.2263+1292_2263+1293del
NR_159804.1:n.1648+5157_1648+5158del
NR_159805.1:n.1714+5157_1714+5158del
NR_159806.1:n.1866+1292_1866+1293del
NR_159807.1:n.1622+5157_1622+5158del
NR_159808.1:n.1826+5157_1826+5158del
NM_000328.3:c.1905+1292_1905+1293del	NP_000319.1:n.1905+1292_1905+1293del
NM_001034853.2:c.3197_3198del MANE Select	NP_001030025.1:p.Glu1066GlyfsTer12