Canonical Allele Identifier: CA2693439072

Gene: RPGR

Linked Data

• gnomAD v4: X-38286381-T-TCCTCTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286385_38286386insTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTC , CM000685.2:g.38286385_38286386insTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTC	GRCh38
NC_000023.10:g.38145638_38145639insTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTC , CM000685.1:g.38145638_38145639insTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTC	GRCh37
NC_000023.9:g.38030582_38030583insTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTC	NCBI36
NG_009553.1:g.46154_46155insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1483_953+1484insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
ENST00000642170.1:n.1826+4577_1826+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
ENST00000642395.2:c.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000493468.2:n.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000642739.1:c.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000493596.1:n.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGA...
ENST00000644238.1:c.1386+4577_1386+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000496728.1:n.1386+4577_1386+4578insGGGAAGAGGAGGAAGGAGA...
ENST00000644337.1:c.1719+712_1719+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000494557.1:n.1719+712_1719+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000645032.1:c.2617_2618insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG MANE Select	ENSP00000495537.1:p.Glu872_Glu873insGlyGluGluGluGluGlyGluGlyG...
ENST00000645124.1:c.*101+712_*101+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000496446.1:n.*101+712_*101+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000646020.1:c.*594+712_*594+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000494745.1:n.*594+712_*594+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000318842.11:c.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000322219.6:n.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000339363.7:c.2520+712_2520+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000343671.3:n.2520+712_2520+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000378505.6:c.2617_2618insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000367766.2:p.Glu872_Glu873insGlyGluGluGluGluGlyGluGlyG...
ENST00000465127.1:c.172-379736_172-379735insTTCTCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTC	ENSP00000417050.1:n.172-379736_172-379735insTTCTCCCTCCCCTTCTC...
ENST00000474584.5:c.*37+4577_*37+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000418926.1:n.*37+4577_*37+4578insGGGAAGAGGAGGAAGGAGAAG...
ENST00000482855.5:c.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	ENSP00000419276.1:n.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAG...
ENST00000494707.5:c.139+4577_139+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NM_000328.2:c.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_000319.1:n.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGG...
NM_001034853.1:c.2617_2618insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001030025.1:p.Glu872_Glu873insGlyGluGluGluGluGlyGluGlyGluG...
XM_005272633.1:c.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	XP_005272690.1:n.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGG...
XM_011543940.1:c.1902+712_1902+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	XP_011542242.1:n.1902+712_1902+713insGGGAAGAGGAGGAAGGAGAAGGGG...
XM_005272633.3:c.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	XP_005272690.1:n.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGG...
XM_011543940.3:c.1902+712_1902+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	XP_011542242.1:n.1902+712_1902+713insGGGAAGAGGAGGAAGGAGAAGGGG...
XM_017029712.2:c.1569+4577_1569+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	XP_016885201.1:n.1569+4577_1569+4578insGGGAAGAGGAGGAAGGAGAAGG...
NM_001367245.1:c.1902+712_1902+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354174.1:n.1902+712_1902+713insGGGAAGAGGAGGAAGGAGAAGGGG...
NM_001367246.1:c.1719+712_1719+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354175.1:n.1719+712_1719+713insGGGAAGAGGAGGAAGGAGAAGGGG...
NM_001367247.1:c.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354176.1:n.1572+4577_1572+4578insGGGAAGAGGAGGAAGGAGAAGG...
NM_001367248.1:c.1602+4577_1602+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354177.1:n.1602+4577_1602+4578insGGGAAGAGGAGGAAGGAGAAGG...
NM_001367249.1:c.1569+4577_1569+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354178.1:n.1569+4577_1569+4578insGGGAAGAGGAGGAAGGAGAAGG...
NM_001367250.1:c.1569+4577_1569+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354179.1:n.1569+4577_1569+4578insGGGAAGAGGAGGAAGGAGAAGG...
NM_001367251.1:c.1386+4577_1386+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_001354180.1:n.1386+4577_1386+4578insGGGAAGAGGAGGAAGGAGAAGG...
NR_159803.1:n.2263+712_2263+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NR_159804.1:n.1648+4577_1648+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NR_159805.1:n.1714+4577_1714+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NR_159806.1:n.1866+712_1866+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NR_159807.1:n.1622+4577_1622+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NR_159808.1:n.1826+4577_1826+4578insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG
NM_000328.3:c.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG	NP_000319.1:n.1905+712_1905+713insGGGAAGAGGAGGAAGGAGAAGGGGAGG...
NM_001034853.2:c.2617_2618insGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAAGAGG MANE Select	NP_001030025.1:p.Glu872_Glu873insGlyGluGluGluGluGlyGluGlyGluG...