Canonical Allele Identifier: CA515709080

Gene: RPGR

Linked Data

• dbSNP Id: rs1555961445
• MyVariant Identifiers: chrX:g.38145307_38145315del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286054_38286062del , CM000685.2:g.38286054_38286062del	GRCh38
NC_000023.10:g.38145307_38145315del , CM000685.1:g.38145307_38145315del	GRCh37
NC_000023.9:g.38030251_38030259del	NCBI36
NG_009553.1:g.46474_46482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1803_953+1811del
ENST00000642170.1:n.1826+4897_1826+4905del
ENST00000642395.2:c.1905+1032_1905+1040del	ENSP00000493468.2:n.1905+1032_1905+1040del
ENST00000642739.1:c.1572+4897_1572+4905del	ENSP00000493596.1:n.1572+4897_1572+4905del
ENST00000644238.1:c.1386+4897_1386+4905del	ENSP00000496728.1:n.1386+4897_1386+4905del
ENST00000644337.1:c.1719+1032_1719+1040del	ENSP00000494557.1:n.1719+1032_1719+1040del
ENST00000645032.1:c.2937_2945del MANE Select	ENSP00000495537.1:p.Glu980_Glu982del
ENST00000645124.1:c.*101+1032_*101+1040del	ENSP00000496446.1:n.*101+1032_*101+1040del
ENST00000646020.1:c.*594+1032_*594+1040del	ENSP00000494745.1:n.*594+1032_*594+1040del
ENST00000318842.11:c.1905+1032_1905+1040del	ENSP00000322219.6:n.1905+1032_1905+1040del
ENST00000339363.7:c.2520+1032_2520+1040del	ENSP00000343671.3:n.2520+1032_2520+1040del
ENST00000378505.6:c.2937_2945del	ENSP00000367766.2:p.Glu980_Glu982del
ENST00000465127.1:c.172-380067_172-380059del	ENSP00000417050.1:n.172-380067_172-380059del
ENST00000474584.5:c.*37+4897_*37+4905del	ENSP00000418926.1:n.*37+4897_*37+4905del
ENST00000482855.5:c.1905+1032_1905+1040del	ENSP00000419276.1:n.1905+1032_1905+1040del
ENST00000494707.5:c.139+4897_139+4905del
NM_000328.2:c.1905+1032_1905+1040del	NP_000319.1:n.1905+1032_1905+1040del
NM_001034853.1:c.2937_2945del	NP_001030025.1:p.Glu980_Glu982del
XM_005272633.1:c.1572+4897_1572+4905del	XP_005272690.1:n.1572+4897_1572+4905del
XM_011543940.1:c.1902+1032_1902+1040del	XP_011542242.1:n.1902+1032_1902+1040del
XM_005272633.3:c.1572+4897_1572+4905del	XP_005272690.1:n.1572+4897_1572+4905del
XM_011543940.3:c.1902+1032_1902+1040del	XP_011542242.1:n.1902+1032_1902+1040del
XM_017029712.2:c.1569+4897_1569+4905del	XP_016885201.1:n.1569+4897_1569+4905del
NM_001367245.1:c.1902+1032_1902+1040del	NP_001354174.1:n.1902+1032_1902+1040del
NM_001367246.1:c.1719+1032_1719+1040del	NP_001354175.1:n.1719+1032_1719+1040del
NM_001367247.1:c.1572+4897_1572+4905del	NP_001354176.1:n.1572+4897_1572+4905del
NM_001367248.1:c.1602+4897_1602+4905del	NP_001354177.1:n.1602+4897_1602+4905del
NM_001367249.1:c.1569+4897_1569+4905del	NP_001354178.1:n.1569+4897_1569+4905del
NM_001367250.1:c.1569+4897_1569+4905del	NP_001354179.1:n.1569+4897_1569+4905del
NM_001367251.1:c.1386+4897_1386+4905del	NP_001354180.1:n.1386+4897_1386+4905del
NR_159803.1:n.2263+1032_2263+1040del
NR_159804.1:n.1648+4897_1648+4905del
NR_159805.1:n.1714+4897_1714+4905del
NR_159806.1:n.1866+1032_1866+1040del
NR_159807.1:n.1622+4897_1622+4905del
NR_159808.1:n.1826+4897_1826+4905del
NM_000328.3:c.1905+1032_1905+1040del	NP_000319.1:n.1905+1032_1905+1040del
NM_001034853.2:c.2937_2945del MANE Select	NP_001030025.1:p.Glu980_Glu982del