Canonical Allele Identifier: CA640957095

Gene: RPGR

Linked Data

• dbSNP Id: rs2067135761
• gnomAD v2: X-38145290-CTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCA-C
• gnomAD v3: X-38286037-CTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCA-C
• gnomAD v4: X-38286037-CTTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCCCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCA-C
• MyVariant Identifiers: chrX:g.38145291_38145389del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286071_38286169del , CM000685.2:g.38286071_38286169del	GRCh38
NC_000023.10:g.38145324_38145422del , CM000685.1:g.38145324_38145422del	GRCh37
NC_000023.9:g.38030268_38030366del	NCBI36
NG_009553.1:g.46400_46498del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1729_953+1827del
ENST00000642170.1:n.1826+4823_1826+4921del
ENST00000642395.2:c.1905+958_1905+1056del	ENSP00000493468.2:n.1905+958_1905+1056del...
ENST00000642739.1:c.1572+4823_1572+4921del	ENSP00000493596.1:n.1572+4823_1572+4921de...
ENST00000644238.1:c.1386+4823_1386+4921del	ENSP00000496728.1:n.1386+4823_1386+4921de...
ENST00000644337.1:c.1719+958_1719+1056del	ENSP00000494557.1:n.1719+958_1719+1056del...
ENST00000645032.1:c.2863_2961del MANE Select	ENSP00000495537.1:p.Trp955_Glu987del
ENST00000645124.1:c.*101+958_*101+1056del	ENSP00000496446.1:n.*101+958_*101+1056del...
ENST00000646020.1:c.*594+958_*594+1056del	ENSP00000494745.1:n.*594+958_*594+1056del...
ENST00000318842.11:c.1905+958_1905+1056del	ENSP00000322219.6:n.1905+958_1905+1056del...
ENST00000339363.7:c.2520+958_2520+1056del	ENSP00000343671.3:n.2520+958_2520+1056del...
ENST00000378505.6:c.2863_2961del	ENSP00000367766.2:p.Trp955_Glu987del
ENST00000465127.1:c.172-380050_172-379952del	ENSP00000417050.1:n.172-380050_172-379952...
ENST00000474584.5:c.*37+4823_*37+4921del	ENSP00000418926.1:n.*37+4823_*37+4921del
ENST00000482855.5:c.1905+958_1905+1056del	ENSP00000419276.1:n.1905+958_1905+1056del...
ENST00000494707.5:c.139+4823_139+4921del
NM_000328.2:c.1905+958_1905+1056del	NP_000319.1:n.1905+958_1905+1056del
NM_001034853.1:c.2863_2961del	NP_001030025.1:p.Trp955_Glu987del
XM_005272633.1:c.1572+4823_1572+4921del	XP_005272690.1:n.1572+4823_1572+4921del
XM_011543940.1:c.1902+958_1902+1056del	XP_011542242.1:n.1902+958_1902+1056del
XM_005272633.3:c.1572+4823_1572+4921del	XP_005272690.1:n.1572+4823_1572+4921del
XM_011543940.3:c.1902+958_1902+1056del	XP_011542242.1:n.1902+958_1902+1056del
XM_017029712.2:c.1569+4823_1569+4921del	XP_016885201.1:n.1569+4823_1569+4921del
NM_001367245.1:c.1902+958_1902+1056del	NP_001354174.1:n.1902+958_1902+1056del
NM_001367246.1:c.1719+958_1719+1056del	NP_001354175.1:n.1719+958_1719+1056del
NM_001367247.1:c.1572+4823_1572+4921del	NP_001354176.1:n.1572+4823_1572+4921del
NM_001367248.1:c.1602+4823_1602+4921del	NP_001354177.1:n.1602+4823_1602+4921del
NM_001367249.1:c.1569+4823_1569+4921del	NP_001354178.1:n.1569+4823_1569+4921del
NM_001367250.1:c.1569+4823_1569+4921del	NP_001354179.1:n.1569+4823_1569+4921del
NM_001367251.1:c.1386+4823_1386+4921del	NP_001354180.1:n.1386+4823_1386+4921del
NR_159803.1:n.2263+958_2263+1056del
NR_159804.1:n.1648+4823_1648+4921del
NR_159805.1:n.1714+4823_1714+4921del
NR_159806.1:n.1866+958_1866+1056del
NR_159807.1:n.1622+4823_1622+4921del
NR_159808.1:n.1826+4823_1826+4921del
NM_000328.3:c.1905+958_1905+1056del	NP_000319.1:n.1905+958_1905+1056del
NM_001034853.2:c.2863_2961del MANE Select	NP_001030025.1:p.Trp955_Glu987del