Canonical Allele Identifier: CA2693438949

Gene: RPGR

Linked Data

• gnomAD v4: X-38286101-C-CCCTTCTCCTTCCTCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286103_38286104insTTCTCCTTCCTCTTCTCC , CM000685.2:g.38286103_38286104insTTCTCCTTCCTCTTCTCC	GRCh38
NC_000023.10:g.38145356_38145357insTTCTCCTTCCTCTTCTCC , CM000685.1:g.38145356_38145357insTTCTCCTTCCTCTTCTCC	GRCh37
NC_000023.9:g.38030300_38030301insTTCTCCTTCCTCTTCTCC	NCBI36
NG_009553.1:g.46434_46435insAGAAGAGGAAGGAGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1763_953+1764insAGAAGAGGAAGGAGAAGG
ENST00000642170.1:n.1826+4857_1826+4858insAGAAGAGGAAGGAGAAGG
ENST00000642395.2:c.1905+992_1905+993insAGAAGAGGAAGGAGAAGG	ENSP00000493468.2:n.1905+992_1905+993insAGAAGAGGAAGGAGAAGG
ENST00000642739.1:c.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG	ENSP00000493596.1:n.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG
ENST00000644238.1:c.1386+4857_1386+4858insAGAAGAGGAAGGAGAAGG	ENSP00000496728.1:n.1386+4857_1386+4858insAGAAGAGGAAGGAGAAGG
ENST00000644337.1:c.1719+992_1719+993insAGAAGAGGAAGGAGAAGG	ENSP00000494557.1:n.1719+992_1719+993insAGAAGAGGAAGGAGAAGG
ENST00000645032.1:c.2897_2898insAGAAGAGGAAGGAGAAGG MANE Select	ENSP00000495537.1:p.Gly966_Glu967insGluGluGluGlyGluGly
ENST00000645124.1:c.*101+992_*101+993insAGAAGAGGAAGGAGAAGG	ENSP00000496446.1:n.*101+992_*101+993insAGAAGAGGAAGGAGAAGG
ENST00000646020.1:c.*594+992_*594+993insAGAAGAGGAAGGAGAAGG	ENSP00000494745.1:n.*594+992_*594+993insAGAAGAGGAAGGAGAAGG
ENST00000318842.11:c.1905+992_1905+993insAGAAGAGGAAGGAGAAGG	ENSP00000322219.6:n.1905+992_1905+993insAGAAGAGGAAGGAGAAGG
ENST00000339363.7:c.2520+992_2520+993insAGAAGAGGAAGGAGAAGG	ENSP00000343671.3:n.2520+992_2520+993insAGAAGAGGAAGGAGAAGG
ENST00000378505.6:c.2897_2898insAGAAGAGGAAGGAGAAGG	ENSP00000367766.2:p.Gly966_Glu967insGluGluGluGlyGluGly
ENST00000465127.1:c.172-380018_172-380017insTTCTCCTTCCTCTTCTCC	ENSP00000417050.1:n.172-380018_172-380017insTTCTCCTTCCTCTTCTC...
ENST00000474584.5:c.*37+4857_*37+4858insAGAAGAGGAAGGAGAAGG	ENSP00000418926.1:n.*37+4857_*37+4858insAGAAGAGGAAGGAGAAGG
ENST00000482855.5:c.1905+992_1905+993insAGAAGAGGAAGGAGAAGG	ENSP00000419276.1:n.1905+992_1905+993insAGAAGAGGAAGGAGAAGG
ENST00000494707.5:c.139+4857_139+4858insAGAAGAGGAAGGAGAAGG
NM_000328.2:c.1905+992_1905+993insAGAAGAGGAAGGAGAAGG	NP_000319.1:n.1905+992_1905+993insAGAAGAGGAAGGAGAAGG
NM_001034853.1:c.2897_2898insAGAAGAGGAAGGAGAAGG	NP_001030025.1:p.Gly966_Glu967insGluGluGluGlyGluGly
XM_005272633.1:c.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG	XP_005272690.1:n.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG
XM_011543940.1:c.1902+992_1902+993insAGAAGAGGAAGGAGAAGG	XP_011542242.1:n.1902+992_1902+993insAGAAGAGGAAGGAGAAGG
XM_005272633.3:c.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG	XP_005272690.1:n.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG
XM_011543940.3:c.1902+992_1902+993insAGAAGAGGAAGGAGAAGG	XP_011542242.1:n.1902+992_1902+993insAGAAGAGGAAGGAGAAGG
XM_017029712.2:c.1569+4857_1569+4858insAGAAGAGGAAGGAGAAGG	XP_016885201.1:n.1569+4857_1569+4858insAGAAGAGGAAGGAGAAGG
NM_001367245.1:c.1902+992_1902+993insAGAAGAGGAAGGAGAAGG	NP_001354174.1:n.1902+992_1902+993insAGAAGAGGAAGGAGAAGG
NM_001367246.1:c.1719+992_1719+993insAGAAGAGGAAGGAGAAGG	NP_001354175.1:n.1719+992_1719+993insAGAAGAGGAAGGAGAAGG
NM_001367247.1:c.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG	NP_001354176.1:n.1572+4857_1572+4858insAGAAGAGGAAGGAGAAGG
NM_001367248.1:c.1602+4857_1602+4858insAGAAGAGGAAGGAGAAGG	NP_001354177.1:n.1602+4857_1602+4858insAGAAGAGGAAGGAGAAGG
NM_001367249.1:c.1569+4857_1569+4858insAGAAGAGGAAGGAGAAGG	NP_001354178.1:n.1569+4857_1569+4858insAGAAGAGGAAGGAGAAGG
NM_001367250.1:c.1569+4857_1569+4858insAGAAGAGGAAGGAGAAGG	NP_001354179.1:n.1569+4857_1569+4858insAGAAGAGGAAGGAGAAGG
NM_001367251.1:c.1386+4857_1386+4858insAGAAGAGGAAGGAGAAGG	NP_001354180.1:n.1386+4857_1386+4858insAGAAGAGGAAGGAGAAGG
NR_159803.1:n.2263+992_2263+993insAGAAGAGGAAGGAGAAGG
NR_159804.1:n.1648+4857_1648+4858insAGAAGAGGAAGGAGAAGG
NR_159805.1:n.1714+4857_1714+4858insAGAAGAGGAAGGAGAAGG
NR_159806.1:n.1866+992_1866+993insAGAAGAGGAAGGAGAAGG
NR_159807.1:n.1622+4857_1622+4858insAGAAGAGGAAGGAGAAGG
NR_159808.1:n.1826+4857_1826+4858insAGAAGAGGAAGGAGAAGG
NM_000328.3:c.1905+992_1905+993insAGAAGAGGAAGGAGAAGG	NP_000319.1:n.1905+992_1905+993insAGAAGAGGAAGGAGAAGG
NM_001034853.2:c.2897_2898insAGAAGAGGAAGGAGAAGG MANE Select	NP_001030025.1:p.Gly966_Glu967insGluGluGluGlyGluGly