Canonical Allele Identifier: CA2693438900

Gene: RPGR

Linked Data

• gnomAD v4: X-38286009-TCTTCCCCTTCCTCCTCTTCCCCCTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286014_38286040del , CM000685.2:g.38286014_38286040del	GRCh38
NC_000023.10:g.38145267_38145293del , CM000685.1:g.38145267_38145293del	GRCh37
NC_000023.9:g.38030211_38030237del	NCBI36
NG_009553.1:g.46500_46526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1829_953+1855del
ENST00000642170.1:n.1826+4923_1826+4949del
ENST00000642395.2:c.1905+1058_1905+1084del	ENSP00000493468.2:n.1905+1058_1905+1084del
ENST00000642739.1:c.1572+4923_1572+4949del	ENSP00000493596.1:n.1572+4923_1572+4949del
ENST00000644238.1:c.1386+4923_1386+4949del	ENSP00000496728.1:n.1386+4923_1386+4949del
ENST00000644337.1:c.1719+1058_1719+1084del	ENSP00000494557.1:n.1719+1058_1719+1084del
ENST00000645032.1:c.2963_2989del MANE Select	ENSP00000495537.1:p.Gly988_Glu996del
ENST00000645124.1:c.*101+1058_*101+1084del	ENSP00000496446.1:n.*101+1058_*101+1084del
ENST00000646020.1:c.*594+1058_*594+1084del	ENSP00000494745.1:n.*594+1058_*594+1084del
ENST00000318842.11:c.1905+1058_1905+1084del	ENSP00000322219.6:n.1905+1058_1905+1084del
ENST00000339363.7:c.2520+1058_2520+1084del	ENSP00000343671.3:n.2520+1058_2520+1084del
ENST00000378505.6:c.2963_2989del	ENSP00000367766.2:p.Gly988_Glu996del
ENST00000465127.1:c.172-380107_172-380081del	ENSP00000417050.1:n.172-380107_172-380081del
ENST00000474584.5:c.*37+4923_*37+4949del	ENSP00000418926.1:n.*37+4923_*37+4949del
ENST00000482855.5:c.1905+1058_1905+1084del	ENSP00000419276.1:n.1905+1058_1905+1084del
ENST00000494707.5:c.139+4923_139+4949del
NM_000328.2:c.1905+1058_1905+1084del	NP_000319.1:n.1905+1058_1905+1084del
NM_001034853.1:c.2963_2989del	NP_001030025.1:p.Gly988_Glu996del
XM_005272633.1:c.1572+4923_1572+4949del	XP_005272690.1:n.1572+4923_1572+4949del
XM_011543940.1:c.1902+1058_1902+1084del	XP_011542242.1:n.1902+1058_1902+1084del
XM_005272633.3:c.1572+4923_1572+4949del	XP_005272690.1:n.1572+4923_1572+4949del
XM_011543940.3:c.1902+1058_1902+1084del	XP_011542242.1:n.1902+1058_1902+1084del
XM_017029712.2:c.1569+4923_1569+4949del	XP_016885201.1:n.1569+4923_1569+4949del
NM_001367245.1:c.1902+1058_1902+1084del	NP_001354174.1:n.1902+1058_1902+1084del
NM_001367246.1:c.1719+1058_1719+1084del	NP_001354175.1:n.1719+1058_1719+1084del
NM_001367247.1:c.1572+4923_1572+4949del	NP_001354176.1:n.1572+4923_1572+4949del
NM_001367248.1:c.1602+4923_1602+4949del	NP_001354177.1:n.1602+4923_1602+4949del
NM_001367249.1:c.1569+4923_1569+4949del	NP_001354178.1:n.1569+4923_1569+4949del
NM_001367250.1:c.1569+4923_1569+4949del	NP_001354179.1:n.1569+4923_1569+4949del
NM_001367251.1:c.1386+4923_1386+4949del	NP_001354180.1:n.1386+4923_1386+4949del
NR_159803.1:n.2263+1058_2263+1084del
NR_159804.1:n.1648+4923_1648+4949del
NR_159805.1:n.1714+4923_1714+4949del
NR_159806.1:n.1866+1058_1866+1084del
NR_159807.1:n.1622+4923_1622+4949del
NR_159808.1:n.1826+4923_1826+4949del
NM_000328.3:c.1905+1058_1905+1084del	NP_000319.1:n.1905+1058_1905+1084del
NM_001034853.2:c.2963_2989del MANE Select	NP_001030025.1:p.Gly988_Glu996del