Canonical Allele Identifier: CA1132420518

Gene: RPGR

Linked Data

• gnomAD v3: X-38286439-CTTCCTCCTCTTCCCCCTCCCCTTCCTCCTCTTCCCCCTCCCCTTCCTCCTCTTCCCCCTCACCCTCCTCCTCTTCCTCTTCCCTCTCTCCTTTCCCCTCCTCTACTTCCCCTCCCTCTACTTCCCCTCCCTCCTCTTTTTCCTCCCCTCTCCCCTCTGT-C
• gnomAD v4: X-38286439-CTTCCTCCTCTTCCCCCTCCCCTTCCTCCTCTTCCCCCTCCCCTTCCTCCTCTTCCCCCTCACCCTCCTCCTCTTCCTCTTCCCTCTCTCCTTTCCCCTCCTCTACTTCCCCTCCCTCTACTTCCCCTCCCTCCTCTTTTTCCTCCCCTCTCCCCTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286458_38286616del , CM000685.2:g.38286458_38286616del	GRCh38
NC_000023.10:g.38145711_38145869del , CM000685.1:g.38145711_38145869del	GRCh37
NC_000023.9:g.38030655_38030813del	NCBI36
NG_009553.1:g.45938_46096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1267_953+1425del
ENST00000642170.1:n.1826+4361_1826+4519del
ENST00000642395.2:c.1905+496_1905+654del	ENSP00000493468.2:n.1905+496_1905+654del
ENST00000642739.1:c.1572+4361_1572+4519del	ENSP00000493596.1:n.1572+4361_1572+4519de...
ENST00000644238.1:c.1386+4361_1386+4519del	ENSP00000496728.1:n.1386+4361_1386+4519de...
ENST00000644337.1:c.1719+496_1719+654del	ENSP00000494557.1:n.1719+496_1719+654del
ENST00000645032.1:c.2401_2559del MANE Select	ENSP00000495537.1:p.Thr801_Glu853del
ENST00000645124.1:c.*101+496_*101+654del	ENSP00000496446.1:n.*101+496_*101+654del
ENST00000646020.1:c.*594+496_*594+654del	ENSP00000494745.1:n.*594+496_*594+654del
ENST00000318842.11:c.1905+496_1905+654del	ENSP00000322219.6:n.1905+496_1905+654del
ENST00000339363.7:c.2520+496_2520+654del	ENSP00000343671.3:n.2520+496_2520+654del
ENST00000378505.6:c.2401_2559del	ENSP00000367766.2:p.Thr801_Glu853del
ENST00000465127.1:c.172-379663_172-379505del	ENSP00000417050.1:n.172-379663_172-379505...
ENST00000474584.5:c.*37+4361_*37+4519del	ENSP00000418926.1:n.*37+4361_*37+4519del
ENST00000482855.5:c.1905+496_1905+654del	ENSP00000419276.1:n.1905+496_1905+654del
ENST00000494707.5:c.139+4361_139+4519del
NM_000328.2:c.1905+496_1905+654del	NP_000319.1:n.1905+496_1905+654del
NM_001034853.1:c.2401_2559del	NP_001030025.1:p.Thr801_Glu853del
XM_005272633.1:c.1572+4361_1572+4519del	XP_005272690.1:n.1572+4361_1572+4519del
XM_011543940.1:c.1902+496_1902+654del	XP_011542242.1:n.1902+496_1902+654del
XM_005272633.3:c.1572+4361_1572+4519del	XP_005272690.1:n.1572+4361_1572+4519del
XM_011543940.3:c.1902+496_1902+654del	XP_011542242.1:n.1902+496_1902+654del
XM_017029712.2:c.1569+4361_1569+4519del	XP_016885201.1:n.1569+4361_1569+4519del
NM_001367245.1:c.1902+496_1902+654del	NP_001354174.1:n.1902+496_1902+654del
NM_001367246.1:c.1719+496_1719+654del	NP_001354175.1:n.1719+496_1719+654del
NM_001367247.1:c.1572+4361_1572+4519del	NP_001354176.1:n.1572+4361_1572+4519del
NM_001367248.1:c.1602+4361_1602+4519del	NP_001354177.1:n.1602+4361_1602+4519del
NM_001367249.1:c.1569+4361_1569+4519del	NP_001354178.1:n.1569+4361_1569+4519del
NM_001367250.1:c.1569+4361_1569+4519del	NP_001354179.1:n.1569+4361_1569+4519del
NM_001367251.1:c.1386+4361_1386+4519del	NP_001354180.1:n.1386+4361_1386+4519del
NR_159803.1:n.2263+496_2263+654del
NR_159804.1:n.1648+4361_1648+4519del
NR_159805.1:n.1714+4361_1714+4519del
NR_159806.1:n.1866+496_1866+654del
NR_159807.1:n.1622+4361_1622+4519del
NR_159808.1:n.1826+4361_1826+4519del
NM_000328.3:c.1905+496_1905+654del	NP_000319.1:n.1905+496_1905+654del
NM_001034853.2:c.2401_2559del MANE Select	NP_001030025.1:p.Thr801_Glu853del