Canonical Allele Identifier: CA10385176

Gene: RPGR

Linked Data

• ClinVar Variation Id: 977528
• ClinVar RCV Id: RCV001255232 ; RCV001699527 ; RCV003887975
• dbSNP Id: rs746535151
• ExAC: X:38145060 TTCC / T
• gnomAD v2: X-38145060-TTCC-T
• gnomAD v3: X-38285807-TTCC-T
• gnomAD v4: X-38285807-TTCC-T
• MyVariant Identifiers: chrX:g.38145061_38145063del (hg19) ; chrX:g.38285809_38285811del (hg38) ; chrX:g.38285808_38285810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285816_38285818del , CM000685.2:g.38285816_38285818del	GRCh38
NC_000023.10:g.38145069_38145071del , CM000685.1:g.38145069_38145071del	GRCh37
NC_000023.9:g.38030013_38030015del	NCBI36
NG_009553.1:g.46726_46728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+2055_953+2057del
ENST00000642170.1:n.1826+5149_1826+5151del
ENST00000642395.2:c.1905+1284_1905+1286del	ENSP00000493468.2:n.1905+1284_1905+1286del
ENST00000642739.1:c.1572+5149_1572+5151del	ENSP00000493596.1:n.1572+5149_1572+5151del
ENST00000644238.1:c.1386+5149_1386+5151del	ENSP00000496728.1:n.1386+5149_1386+5151del
ENST00000644337.1:c.1719+1284_1719+1286del	ENSP00000494557.1:n.1719+1284_1719+1286del
ENST00000645032.1:c.3189_3191del MANE Select	ENSP00000495537.1:p.Glu1064del
ENST00000645124.1:c.*101+1284_*101+1286del	ENSP00000496446.1:n.*101+1284_*101+1286del
ENST00000646020.1:c.*594+1284_*594+1286del	ENSP00000494745.1:n.*594+1284_*594+1286del
ENST00000318842.11:c.1905+1284_1905+1286del	ENSP00000322219.6:n.1905+1284_1905+1286del
ENST00000339363.7:c.2520+1284_2520+1286del	ENSP00000343671.3:n.2520+1284_2520+1286del
ENST00000378505.6:c.3189_3191del	ENSP00000367766.2:p.Glu1064del
ENST00000465127.1:c.172-380305_172-380303del	ENSP00000417050.1:n.172-380305_172-380303del
ENST00000474584.5:c.*37+5149_*37+5151del	ENSP00000418926.1:n.*37+5149_*37+5151del
ENST00000482855.5:c.1905+1284_1905+1286del	ENSP00000419276.1:n.1905+1284_1905+1286del
ENST00000494707.5:c.139+5149_139+5151del
NM_000328.2:c.1905+1284_1905+1286del	NP_000319.1:n.1905+1284_1905+1286del
NM_001034853.1:c.3189_3191del	NP_001030025.1:p.Glu1064del
XM_005272633.1:c.1572+5149_1572+5151del	XP_005272690.1:n.1572+5149_1572+5151del
XM_011543940.1:c.1902+1284_1902+1286del	XP_011542242.1:n.1902+1284_1902+1286del
XM_005272633.3:c.1572+5149_1572+5151del	XP_005272690.1:n.1572+5149_1572+5151del
XM_011543940.3:c.1902+1284_1902+1286del	XP_011542242.1:n.1902+1284_1902+1286del
XM_017029712.2:c.1569+5149_1569+5151del	XP_016885201.1:n.1569+5149_1569+5151del
NM_001367245.1:c.1902+1284_1902+1286del	NP_001354174.1:n.1902+1284_1902+1286del
NM_001367246.1:c.1719+1284_1719+1286del	NP_001354175.1:n.1719+1284_1719+1286del
NM_001367247.1:c.1572+5149_1572+5151del	NP_001354176.1:n.1572+5149_1572+5151del
NM_001367248.1:c.1602+5149_1602+5151del	NP_001354177.1:n.1602+5149_1602+5151del
NM_001367249.1:c.1569+5149_1569+5151del	NP_001354178.1:n.1569+5149_1569+5151del
NM_001367250.1:c.1569+5149_1569+5151del	NP_001354179.1:n.1569+5149_1569+5151del
NM_001367251.1:c.1386+5149_1386+5151del	NP_001354180.1:n.1386+5149_1386+5151del
NR_159803.1:n.2263+1284_2263+1286del
NR_159804.1:n.1648+5149_1648+5151del
NR_159805.1:n.1714+5149_1714+5151del
NR_159806.1:n.1866+1284_1866+1286del
NR_159807.1:n.1622+5149_1622+5151del
NR_159808.1:n.1826+5149_1826+5151del
NM_000328.3:c.1905+1284_1905+1286del	NP_000319.1:n.1905+1284_1905+1286del
NM_001034853.2:c.3189_3191del MANE Select	NP_001030025.1:p.Glu1064del