Canonical Allele Identifier: CA10385229

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1802307
• ClinVar RCV Id: RCV002465120 ; RCV002571384
• dbSNP Id: rs767258184
• ExAC: X:38145267 CCCTTCCTCCTCTTCCCCCTCCCCTTCT / C
• gnomAD v2: X-38145267-CCCTTCCTCCTCTTCCCCCTCCCCTTCT-C
• gnomAD v3: X-38286014-CCCTTCCTCCTCTTCCCCCTCCCCTTCT-C
• gnomAD v4: X-38286014-CCCTTCCTCCTCTTCCCCCTCCCCTTCT-C
• MyVariant Identifiers: chrX:g.38145268_38145294del (hg19) ; chrX:g.38286015_38286041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286051_38286077del , CM000685.2:g.38286051_38286077del	GRCh38
NC_000023.10:g.38145304_38145330del , CM000685.1:g.38145304_38145330del	GRCh37
NC_000023.9:g.38030248_38030274del	NCBI36
NG_009553.1:g.46495_46521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1824_953+1850del
ENST00000642170.1:n.1826+4918_1826+4944del
ENST00000642395.2:c.1905+1053_1905+1079del	ENSP00000493468.2:n.1905+1053_1905+1079del
ENST00000642739.1:c.1572+4918_1572+4944del	ENSP00000493596.1:n.1572+4918_1572+4944del
ENST00000644238.1:c.1386+4918_1386+4944del	ENSP00000496728.1:n.1386+4918_1386+4944del
ENST00000644337.1:c.1719+1053_1719+1079del	ENSP00000494557.1:n.1719+1053_1719+1079del
ENST00000645032.1:c.2958_2984del MANE Select	ENSP00000495537.1:p.Glu987_Gly995del
ENST00000645124.1:c.*101+1053_*101+1079del	ENSP00000496446.1:n.*101+1053_*101+1079del
ENST00000646020.1:c.*594+1053_*594+1079del	ENSP00000494745.1:n.*594+1053_*594+1079del
ENST00000318842.11:c.1905+1053_1905+1079del	ENSP00000322219.6:n.1905+1053_1905+1079del
ENST00000339363.7:c.2520+1053_2520+1079del	ENSP00000343671.3:n.2520+1053_2520+1079del
ENST00000378505.6:c.2958_2984del	ENSP00000367766.2:p.Glu987_Gly995del
ENST00000465127.1:c.172-380070_172-380044del	ENSP00000417050.1:n.172-380070_172-380044del
ENST00000474584.5:c.*37+4918_*37+4944del	ENSP00000418926.1:n.*37+4918_*37+4944del
ENST00000482855.5:c.1905+1053_1905+1079del	ENSP00000419276.1:n.1905+1053_1905+1079del
ENST00000494707.5:c.139+4918_139+4944del
NM_000328.2:c.1905+1053_1905+1079del	NP_000319.1:n.1905+1053_1905+1079del
NM_001034853.1:c.2958_2984del	NP_001030025.1:p.Glu987_Gly995del
XM_005272633.1:c.1572+4918_1572+4944del	XP_005272690.1:n.1572+4918_1572+4944del
XM_011543940.1:c.1902+1053_1902+1079del	XP_011542242.1:n.1902+1053_1902+1079del
XM_005272633.3:c.1572+4918_1572+4944del	XP_005272690.1:n.1572+4918_1572+4944del
XM_011543940.3:c.1902+1053_1902+1079del	XP_011542242.1:n.1902+1053_1902+1079del
XM_017029712.2:c.1569+4918_1569+4944del	XP_016885201.1:n.1569+4918_1569+4944del
NM_001367245.1:c.1902+1053_1902+1079del	NP_001354174.1:n.1902+1053_1902+1079del
NM_001367246.1:c.1719+1053_1719+1079del	NP_001354175.1:n.1719+1053_1719+1079del
NM_001367247.1:c.1572+4918_1572+4944del	NP_001354176.1:n.1572+4918_1572+4944del
NM_001367248.1:c.1602+4918_1602+4944del	NP_001354177.1:n.1602+4918_1602+4944del
NM_001367249.1:c.1569+4918_1569+4944del	NP_001354178.1:n.1569+4918_1569+4944del
NM_001367250.1:c.1569+4918_1569+4944del	NP_001354179.1:n.1569+4918_1569+4944del
NM_001367251.1:c.1386+4918_1386+4944del	NP_001354180.1:n.1386+4918_1386+4944del
NR_159803.1:n.2263+1053_2263+1079del
NR_159804.1:n.1648+4918_1648+4944del
NR_159805.1:n.1714+4918_1714+4944del
NR_159806.1:n.1866+1053_1866+1079del
NR_159807.1:n.1622+4918_1622+4944del
NR_159808.1:n.1826+4918_1826+4944del
NM_000328.3:c.1905+1053_1905+1079del	NP_000319.1:n.1905+1053_1905+1079del
NM_001034853.2:c.2958_2984del MANE Select	NP_001030025.1:p.Glu987_Gly995del