Canonical Allele Identifier: CA2695200181

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2678450
• ClinVar RCV Id: RCV003466260

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285788_38285804dup , CM000685.2:g.38285788_38285804dup	GRCh38
NC_000023.10:g.38145041_38145057dup , CM000685.1:g.38145041_38145057dup	GRCh37
NC_000023.9:g.38029985_38030001dup	NCBI36
NG_009553.1:g.46735_46751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+2064_953+2080dup
ENST00000642170.1:n.1826+5158_1826+5174dup
ENST00000642395.2:c.1905+1293_1905+1309dup	ENSP00000493468.2:n.1905+1293_1905+1309dup
ENST00000642739.1:c.1572+5158_1572+5174dup	ENSP00000493596.1:n.1572+5158_1572+5174dup
ENST00000644238.1:c.1386+5158_1386+5174dup	ENSP00000496728.1:n.1386+5158_1386+5174dup
ENST00000644337.1:c.1719+1293_1719+1309dup	ENSP00000494557.1:n.1719+1293_1719+1309dup
ENST00000645032.1:c.3198_3214dup MANE Select	ENSP00000495537.1:p.Thr1072ArgfsTer23
ENST00000645124.1:c.*101+1293_*101+1309dup	ENSP00000496446.1:n.*101+1293_*101+1309dup
ENST00000646020.1:c.*594+1293_*594+1309dup	ENSP00000494745.1:n.*594+1293_*594+1309dup
ENST00000318842.11:c.1905+1293_1905+1309dup	ENSP00000322219.6:n.1905+1293_1905+1309dup
ENST00000339363.7:c.2520+1293_2520+1309dup	ENSP00000343671.3:n.2520+1293_2520+1309dup
ENST00000378505.6:c.3198_3214dup	ENSP00000367766.2:p.Thr1072ArgfsTer23
ENST00000465127.1:c.172-380333_172-380317dup	ENSP00000417050.1:n.172-380333_172-380317dup
ENST00000474584.5:c.*37+5158_*37+5174dup	ENSP00000418926.1:n.*37+5158_*37+5174dup
ENST00000482855.5:c.1905+1293_1905+1309dup	ENSP00000419276.1:n.1905+1293_1905+1309dup
ENST00000494707.5:c.139+5158_139+5174dup
NM_000328.2:c.1905+1293_1905+1309dup	NP_000319.1:n.1905+1293_1905+1309dup
NM_001034853.1:c.3198_3214dup	NP_001030025.1:p.Thr1072ArgfsTer23
XM_005272633.1:c.1572+5158_1572+5174dup	XP_005272690.1:n.1572+5158_1572+5174dup
XM_011543940.1:c.1902+1293_1902+1309dup	XP_011542242.1:n.1902+1293_1902+1309dup
XM_005272633.3:c.1572+5158_1572+5174dup	XP_005272690.1:n.1572+5158_1572+5174dup
XM_011543940.3:c.1902+1293_1902+1309dup	XP_011542242.1:n.1902+1293_1902+1309dup
XM_017029712.2:c.1569+5158_1569+5174dup	XP_016885201.1:n.1569+5158_1569+5174dup
NM_001367245.1:c.1902+1293_1902+1309dup	NP_001354174.1:n.1902+1293_1902+1309dup
NM_001367246.1:c.1719+1293_1719+1309dup	NP_001354175.1:n.1719+1293_1719+1309dup
NM_001367247.1:c.1572+5158_1572+5174dup	NP_001354176.1:n.1572+5158_1572+5174dup
NM_001367248.1:c.1602+5158_1602+5174dup	NP_001354177.1:n.1602+5158_1602+5174dup
NM_001367249.1:c.1569+5158_1569+5174dup	NP_001354178.1:n.1569+5158_1569+5174dup
NM_001367250.1:c.1569+5158_1569+5174dup	NP_001354179.1:n.1569+5158_1569+5174dup
NM_001367251.1:c.1386+5158_1386+5174dup	NP_001354180.1:n.1386+5158_1386+5174dup
NR_159803.1:n.2263+1293_2263+1309dup
NR_159804.1:n.1648+5158_1648+5174dup
NR_159805.1:n.1714+5158_1714+5174dup
NR_159806.1:n.1866+1293_1866+1309dup
NR_159807.1:n.1622+5158_1622+5174dup
NR_159808.1:n.1826+5158_1826+5174dup
NM_000328.3:c.1905+1293_1905+1309dup	NP_000319.1:n.1905+1293_1905+1309dup
NM_001034853.2:c.3198_3214dup MANE Select	NP_001030025.1:p.Thr1072ArgfsTer23