Canonical Allele Identifier: CA2693439038

Gene: RPGR

Linked Data

• gnomAD v4: X-38286203-CCCCTCCCCTTCTCCTTCCTCTCCTTCCTCCTCCCCTTTCCCTTCTCCTTCCTCCTCTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286225_38286284del , CM000685.2:g.38286225_38286284del	GRCh38
NC_000023.10:g.38145478_38145537del , CM000685.1:g.38145478_38145537del	GRCh37
NC_000023.9:g.38030422_38030481del	NCBI36
NG_009553.1:g.46273_46332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1602_953+1661del
ENST00000642170.1:n.1826+4696_1826+4755del
ENST00000642395.2:c.1905+831_1905+890del	ENSP00000493468.2:n.1905+831_1905+890del
ENST00000642739.1:c.1572+4696_1572+4755del	ENSP00000493596.1:n.1572+4696_1572+4755del
ENST00000644238.1:c.1386+4696_1386+4755del	ENSP00000496728.1:n.1386+4696_1386+4755del
ENST00000644337.1:c.1719+831_1719+890del	ENSP00000494557.1:n.1719+831_1719+890del
ENST00000645032.1:c.2736_2795del MANE Select	ENSP00000495537.1:p.Glu913_Gly932del
ENST00000645124.1:c.*101+831_*101+890del	ENSP00000496446.1:n.*101+831_*101+890del
ENST00000646020.1:c.*594+831_*594+890del	ENSP00000494745.1:n.*594+831_*594+890del
ENST00000318842.11:c.1905+831_1905+890del	ENSP00000322219.6:n.1905+831_1905+890del
ENST00000339363.7:c.2520+831_2520+890del	ENSP00000343671.3:n.2520+831_2520+890del
ENST00000378505.6:c.2736_2795del	ENSP00000367766.2:p.Glu913_Gly932del
ENST00000465127.1:c.172-379896_172-379837del	ENSP00000417050.1:n.172-379896_172-379837del
ENST00000474584.5:c.*37+4696_*37+4755del	ENSP00000418926.1:n.*37+4696_*37+4755del
ENST00000482855.5:c.1905+831_1905+890del	ENSP00000419276.1:n.1905+831_1905+890del
ENST00000494707.5:c.139+4696_139+4755del
NM_000328.2:c.1905+831_1905+890del	NP_000319.1:n.1905+831_1905+890del
NM_001034853.1:c.2736_2795del	NP_001030025.1:p.Glu913_Gly932del
XM_005272633.1:c.1572+4696_1572+4755del	XP_005272690.1:n.1572+4696_1572+4755del
XM_011543940.1:c.1902+831_1902+890del	XP_011542242.1:n.1902+831_1902+890del
XM_005272633.3:c.1572+4696_1572+4755del	XP_005272690.1:n.1572+4696_1572+4755del
XM_011543940.3:c.1902+831_1902+890del	XP_011542242.1:n.1902+831_1902+890del
XM_017029712.2:c.1569+4696_1569+4755del	XP_016885201.1:n.1569+4696_1569+4755del
NM_001367245.1:c.1902+831_1902+890del	NP_001354174.1:n.1902+831_1902+890del
NM_001367246.1:c.1719+831_1719+890del	NP_001354175.1:n.1719+831_1719+890del
NM_001367247.1:c.1572+4696_1572+4755del	NP_001354176.1:n.1572+4696_1572+4755del
NM_001367248.1:c.1602+4696_1602+4755del	NP_001354177.1:n.1602+4696_1602+4755del
NM_001367249.1:c.1569+4696_1569+4755del	NP_001354178.1:n.1569+4696_1569+4755del
NM_001367250.1:c.1569+4696_1569+4755del	NP_001354179.1:n.1569+4696_1569+4755del
NM_001367251.1:c.1386+4696_1386+4755del	NP_001354180.1:n.1386+4696_1386+4755del
NR_159803.1:n.2263+831_2263+890del
NR_159804.1:n.1648+4696_1648+4755del
NR_159805.1:n.1714+4696_1714+4755del
NR_159806.1:n.1866+831_1866+890del
NR_159807.1:n.1622+4696_1622+4755del
NR_159808.1:n.1826+4696_1826+4755del
NM_000328.3:c.1905+831_1905+890del	NP_000319.1:n.1905+831_1905+890del
NM_001034853.2:c.2736_2795del MANE Select	NP_001030025.1:p.Glu913_Gly932del