Canonical Allele Identifier: CA645616658

Gene: RPGR

Linked Data

• COSMIC: COSM5076772

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286129_38286380del , CM000685.2:g.38286129_38286380del	GRCh38
NC_000023.10:g.38145382_38145633del , CM000685.1:g.38145382_38145633del	GRCh37
NC_000023.9:g.38030326_38030577del	NCBI36
NG_009553.1:g.46156_46407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1485_953+1736del
ENST00000642170.1:n.1826+4579_1826+4830del
ENST00000642395.2:c.1905+714_1905+965del	ENSP00000493468.2:n.1905+714_1905+965del
ENST00000642739.1:c.1572+4579_1572+4830del	ENSP00000493596.1:n.1572+4579_1572+4830de...
ENST00000644238.1:c.1386+4579_1386+4830del	ENSP00000496728.1:n.1386+4579_1386+4830de...
ENST00000644337.1:c.1719+714_1719+965del	ENSP00000494557.1:n.1719+714_1719+965del
ENST00000645032.1:c.2619_2870del MANE Select	ENSP00000495537.1:p.Gly874_Gly957del
ENST00000645124.1:c.*101+714_*101+965del	ENSP00000496446.1:n.*101+714_*101+965del
ENST00000646020.1:c.*594+714_*594+965del	ENSP00000494745.1:n.*594+714_*594+965del
ENST00000318842.11:c.1905+714_1905+965del	ENSP00000322219.6:n.1905+714_1905+965del
ENST00000339363.7:c.2520+714_2520+965del	ENSP00000343671.3:n.2520+714_2520+965del
ENST00000378505.6:c.2619_2870del	ENSP00000367766.2:p.Gly874_Gly957del
ENST00000465127.1:c.172-379992_172-379741del	ENSP00000417050.1:n.172-379992_172-379741...
ENST00000474584.5:c.*37+4579_*37+4830del	ENSP00000418926.1:n.*37+4579_*37+4830del
ENST00000482855.5:c.1905+714_1905+965del	ENSP00000419276.1:n.1905+714_1905+965del
ENST00000494707.5:c.139+4579_139+4830del
NM_000328.2:c.1905+714_1905+965del	NP_000319.1:n.1905+714_1905+965del
NM_001034853.1:c.2619_2870del	NP_001030025.1:p.Gly874_Gly957del
XM_005272633.1:c.1572+4579_1572+4830del	XP_005272690.1:n.1572+4579_1572+4830del
XM_011543940.1:c.1902+714_1902+965del	XP_011542242.1:n.1902+714_1902+965del
XM_005272633.3:c.1572+4579_1572+4830del	XP_005272690.1:n.1572+4579_1572+4830del
XM_011543940.3:c.1902+714_1902+965del	XP_011542242.1:n.1902+714_1902+965del
XM_017029712.2:c.1569+4579_1569+4830del	XP_016885201.1:n.1569+4579_1569+4830del
NM_001367245.1:c.1902+714_1902+965del	NP_001354174.1:n.1902+714_1902+965del
NM_001367246.1:c.1719+714_1719+965del	NP_001354175.1:n.1719+714_1719+965del
NM_001367247.1:c.1572+4579_1572+4830del	NP_001354176.1:n.1572+4579_1572+4830del
NM_001367248.1:c.1602+4579_1602+4830del	NP_001354177.1:n.1602+4579_1602+4830del
NM_001367249.1:c.1569+4579_1569+4830del	NP_001354178.1:n.1569+4579_1569+4830del
NM_001367250.1:c.1569+4579_1569+4830del	NP_001354179.1:n.1569+4579_1569+4830del
NM_001367251.1:c.1386+4579_1386+4830del	NP_001354180.1:n.1386+4579_1386+4830del
NR_159803.1:n.2263+714_2263+965del
NR_159804.1:n.1648+4579_1648+4830del
NR_159805.1:n.1714+4579_1714+4830del
NR_159806.1:n.1866+714_1866+965del
NR_159807.1:n.1622+4579_1622+4830del
NR_159808.1:n.1826+4579_1826+4830del
NM_000328.3:c.1905+714_1905+965del	NP_000319.1:n.1905+714_1905+965del
NM_001034853.2:c.2619_2870del MANE Select	NP_001030025.1:p.Gly874_Gly957del