Canonical Allele Identifier: CA1132419793

Gene: RPGR

Linked Data

• gnomAD v3: X-38286078-CCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCT-C
• gnomAD v4: X-38286078-CCTTCCCCTTCTCCTTCCTCTTCCCCCTCCCCTTCTCCTTCCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286086_38286130del , CM000685.2:g.38286086_38286130del	GRCh38
NC_000023.10:g.38145339_38145383del , CM000685.1:g.38145339_38145383del	GRCh37
NC_000023.9:g.38030283_38030327del	NCBI36
NG_009553.1:g.46413_46457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1742_953+1786del
ENST00000642170.1:n.1826+4836_1826+4880del
ENST00000642395.2:c.1905+971_1905+1015del	ENSP00000493468.2:n.1905+971_1905+1015del...
ENST00000642739.1:c.1572+4836_1572+4880del	ENSP00000493596.1:n.1572+4836_1572+4880de...
ENST00000644238.1:c.1386+4836_1386+4880del	ENSP00000496728.1:n.1386+4836_1386+4880de...
ENST00000644337.1:c.1719+971_1719+1015del	ENSP00000494557.1:n.1719+971_1719+1015del...
ENST00000645032.1:c.2876_2920del MANE Select	ENSP00000495537.1:p.Glu959_Glu973del
ENST00000645124.1:c.*101+971_*101+1015del	ENSP00000496446.1:n.*101+971_*101+1015del...
ENST00000646020.1:c.*594+971_*594+1015del	ENSP00000494745.1:n.*594+971_*594+1015del...
ENST00000318842.11:c.1905+971_1905+1015del	ENSP00000322219.6:n.1905+971_1905+1015del...
ENST00000339363.7:c.2520+971_2520+1015del	ENSP00000343671.3:n.2520+971_2520+1015del...
ENST00000378505.6:c.2876_2920del	ENSP00000367766.2:p.Glu959_Glu973del
ENST00000465127.1:c.172-380035_172-379991del	ENSP00000417050.1:n.172-380035_172-379991...
ENST00000474584.5:c.*37+4836_*37+4880del	ENSP00000418926.1:n.*37+4836_*37+4880del
ENST00000482855.5:c.1905+971_1905+1015del	ENSP00000419276.1:n.1905+971_1905+1015del...
ENST00000494707.5:c.139+4836_139+4880del
NM_000328.2:c.1905+971_1905+1015del	NP_000319.1:n.1905+971_1905+1015del
NM_001034853.1:c.2876_2920del	NP_001030025.1:p.Glu959_Glu973del
XM_005272633.1:c.1572+4836_1572+4880del	XP_005272690.1:n.1572+4836_1572+4880del
XM_011543940.1:c.1902+971_1902+1015del	XP_011542242.1:n.1902+971_1902+1015del
XM_005272633.3:c.1572+4836_1572+4880del	XP_005272690.1:n.1572+4836_1572+4880del
XM_011543940.3:c.1902+971_1902+1015del	XP_011542242.1:n.1902+971_1902+1015del
XM_017029712.2:c.1569+4836_1569+4880del	XP_016885201.1:n.1569+4836_1569+4880del
NM_001367245.1:c.1902+971_1902+1015del	NP_001354174.1:n.1902+971_1902+1015del
NM_001367246.1:c.1719+971_1719+1015del	NP_001354175.1:n.1719+971_1719+1015del
NM_001367247.1:c.1572+4836_1572+4880del	NP_001354176.1:n.1572+4836_1572+4880del
NM_001367248.1:c.1602+4836_1602+4880del	NP_001354177.1:n.1602+4836_1602+4880del
NM_001367249.1:c.1569+4836_1569+4880del	NP_001354178.1:n.1569+4836_1569+4880del
NM_001367250.1:c.1569+4836_1569+4880del	NP_001354179.1:n.1569+4836_1569+4880del
NM_001367251.1:c.1386+4836_1386+4880del	NP_001354180.1:n.1386+4836_1386+4880del
NR_159803.1:n.2263+971_2263+1015del
NR_159804.1:n.1648+4836_1648+4880del
NR_159805.1:n.1714+4836_1714+4880del
NR_159806.1:n.1866+971_1866+1015del
NR_159807.1:n.1622+4836_1622+4880del
NR_159808.1:n.1826+4836_1826+4880del
NM_000328.3:c.1905+971_1905+1015del	NP_000319.1:n.1905+971_1905+1015del
NM_001034853.2:c.2876_2920del MANE Select	NP_001030025.1:p.Glu959_Glu973del