Canonical Allele Identifier: CA2693439017

Gene: RPGR

Linked Data

• gnomAD v4: X-38286179-T-TTCCCCTTCTCCTTCCTCCTCTTCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286197_38286223dup , CM000685.2:g.38286197_38286223dup	GRCh38
NC_000023.10:g.38145450_38145476dup , CM000685.1:g.38145450_38145476dup	GRCh37
NC_000023.9:g.38030394_38030420dup	NCBI36
NG_009553.1:g.46330_46356dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1659_953+1685dup
ENST00000642170.1:n.1826+4753_1826+4779dup
ENST00000642395.2:c.1905+888_1905+914dup	ENSP00000493468.2:n.1905+888_1905+914dup
ENST00000642739.1:c.1572+4753_1572+4779dup	ENSP00000493596.1:n.1572+4753_1572+4779du...
ENST00000644238.1:c.1386+4753_1386+4779dup	ENSP00000496728.1:n.1386+4753_1386+4779du...
ENST00000644337.1:c.1719+888_1719+914dup	ENSP00000494557.1:n.1719+888_1719+914dup
ENST00000645032.1:c.2793_2819dup MANE Select	ENSP00000495537.1:p.Glu940_Gly941insGlyGl...
ENST00000645124.1:c.*101+888_*101+914dup	ENSP00000496446.1:n.*101+888_*101+914dup
ENST00000646020.1:c.*594+888_*594+914dup	ENSP00000494745.1:n.*594+888_*594+914dup
ENST00000318842.11:c.1905+888_1905+914dup	ENSP00000322219.6:n.1905+888_1905+914dup
ENST00000339363.7:c.2520+888_2520+914dup	ENSP00000343671.3:n.2520+888_2520+914dup
ENST00000378505.6:c.2793_2819dup	ENSP00000367766.2:p.Glu940_Gly941insGlyGl...
ENST00000465127.1:c.172-379924_172-379898dup	ENSP00000417050.1:n.172-379924_172-379898...
ENST00000474584.5:c.*37+4753_*37+4779dup	ENSP00000418926.1:n.*37+4753_*37+4779dup
ENST00000482855.5:c.1905+888_1905+914dup	ENSP00000419276.1:n.1905+888_1905+914dup
ENST00000494707.5:c.139+4753_139+4779dup
NM_000328.2:c.1905+888_1905+914dup	NP_000319.1:n.1905+888_1905+914dup
NM_001034853.1:c.2793_2819dup	NP_001030025.1:p.Glu940_Gly941insGlyGluGl...
XM_005272633.1:c.1572+4753_1572+4779dup	XP_005272690.1:n.1572+4753_1572+4779dup
XM_011543940.1:c.1902+888_1902+914dup	XP_011542242.1:n.1902+888_1902+914dup
XM_005272633.3:c.1572+4753_1572+4779dup	XP_005272690.1:n.1572+4753_1572+4779dup
XM_011543940.3:c.1902+888_1902+914dup	XP_011542242.1:n.1902+888_1902+914dup
XM_017029712.2:c.1569+4753_1569+4779dup	XP_016885201.1:n.1569+4753_1569+4779dup
NM_001367245.1:c.1902+888_1902+914dup	NP_001354174.1:n.1902+888_1902+914dup
NM_001367246.1:c.1719+888_1719+914dup	NP_001354175.1:n.1719+888_1719+914dup
NM_001367247.1:c.1572+4753_1572+4779dup	NP_001354176.1:n.1572+4753_1572+4779dup
NM_001367248.1:c.1602+4753_1602+4779dup	NP_001354177.1:n.1602+4753_1602+4779dup
NM_001367249.1:c.1569+4753_1569+4779dup	NP_001354178.1:n.1569+4753_1569+4779dup
NM_001367250.1:c.1569+4753_1569+4779dup	NP_001354179.1:n.1569+4753_1569+4779dup
NM_001367251.1:c.1386+4753_1386+4779dup	NP_001354180.1:n.1386+4753_1386+4779dup
NR_159803.1:n.2263+888_2263+914dup
NR_159804.1:n.1648+4753_1648+4779dup
NR_159805.1:n.1714+4753_1714+4779dup
NR_159806.1:n.1866+888_1866+914dup
NR_159807.1:n.1622+4753_1622+4779dup
NR_159808.1:n.1826+4753_1826+4779dup
NM_000328.3:c.1905+888_1905+914dup	NP_000319.1:n.1905+888_1905+914dup
NM_001034853.2:c.2793_2819dup MANE Select	NP_001030025.1:p.Glu940_Gly941insGlyGluGl...