Canonical Allele Identifier: CA640957114

Gene: RPGR

Linked Data

• gnomAD v2: X-38145333-T-TTCCCCTTCTCCTTCCTCTTCCCCC
• gnomAD v3: X-38286080-T-TTCCCCTTCTCCTTCCTCTTCCCCC
• gnomAD v4: X-38286080-T-TTCCCCTTCTCCTTCCTCTTCCCCC
• MyVariant Identifiers: chrX:g.38145375_38145411delinsTTCCCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286098_38286121dup , CM000685.2:g.38286098_38286121dup	GRCh38
NC_000023.10:g.38145351_38145374dup , CM000685.1:g.38145351_38145374dup	GRCh37
NC_000023.9:g.38030295_38030318dup	NCBI36
NG_009553.1:g.46432_46455dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1761_953+1784dup
ENST00000642170.1:n.1826+4855_1826+4878dup
ENST00000642395.2:c.1905+990_1905+1013dup	ENSP00000493468.2:n.1905+990_1905+1013dup...
ENST00000642739.1:c.1572+4855_1572+4878dup	ENSP00000493596.1:n.1572+4855_1572+4878du...
ENST00000644238.1:c.1386+4855_1386+4878dup	ENSP00000496728.1:n.1386+4855_1386+4878du...
ENST00000644337.1:c.1719+990_1719+1013dup	ENSP00000494557.1:n.1719+990_1719+1013dup...
ENST00000645032.1:c.2895_2918dup MANE Select	ENSP00000495537.1:p.Glu973_Gly974insGlyGl...
ENST00000645124.1:c.*101+990_*101+1013dup	ENSP00000496446.1:n.*101+990_*101+1013dup...
ENST00000646020.1:c.*594+990_*594+1013dup	ENSP00000494745.1:n.*594+990_*594+1013dup...
ENST00000318842.11:c.1905+990_1905+1013dup	ENSP00000322219.6:n.1905+990_1905+1013dup...
ENST00000339363.7:c.2520+990_2520+1013dup	ENSP00000343671.3:n.2520+990_2520+1013dup...
ENST00000378505.6:c.2895_2918dup	ENSP00000367766.2:p.Glu973_Gly974insGlyGl...
ENST00000465127.1:c.172-380023_172-380000dup	ENSP00000417050.1:n.172-380023_172-380000...
ENST00000474584.5:c.*37+4855_*37+4878dup	ENSP00000418926.1:n.*37+4855_*37+4878dup
ENST00000482855.5:c.1905+990_1905+1013dup	ENSP00000419276.1:n.1905+990_1905+1013dup...
ENST00000494707.5:c.139+4855_139+4878dup
NM_000328.2:c.1905+990_1905+1013dup	NP_000319.1:n.1905+990_1905+1013dup
NM_001034853.1:c.2895_2918dup	NP_001030025.1:p.Glu973_Gly974insGlyGluGl...
XM_005272633.1:c.1572+4855_1572+4878dup	XP_005272690.1:n.1572+4855_1572+4878dup
XM_011543940.1:c.1902+990_1902+1013dup	XP_011542242.1:n.1902+990_1902+1013dup
XM_005272633.3:c.1572+4855_1572+4878dup	XP_005272690.1:n.1572+4855_1572+4878dup
XM_011543940.3:c.1902+990_1902+1013dup	XP_011542242.1:n.1902+990_1902+1013dup
XM_017029712.2:c.1569+4855_1569+4878dup	XP_016885201.1:n.1569+4855_1569+4878dup
NM_001367245.1:c.1902+990_1902+1013dup	NP_001354174.1:n.1902+990_1902+1013dup
NM_001367246.1:c.1719+990_1719+1013dup	NP_001354175.1:n.1719+990_1719+1013dup
NM_001367247.1:c.1572+4855_1572+4878dup	NP_001354176.1:n.1572+4855_1572+4878dup
NM_001367248.1:c.1602+4855_1602+4878dup	NP_001354177.1:n.1602+4855_1602+4878dup
NM_001367249.1:c.1569+4855_1569+4878dup	NP_001354178.1:n.1569+4855_1569+4878dup
NM_001367250.1:c.1569+4855_1569+4878dup	NP_001354179.1:n.1569+4855_1569+4878dup
NM_001367251.1:c.1386+4855_1386+4878dup	NP_001354180.1:n.1386+4855_1386+4878dup
NR_159803.1:n.2263+990_2263+1013dup
NR_159804.1:n.1648+4855_1648+4878dup
NR_159805.1:n.1714+4855_1714+4878dup
NR_159806.1:n.1866+990_1866+1013dup
NR_159807.1:n.1622+4855_1622+4878dup
NR_159808.1:n.1826+4855_1826+4878dup
NM_000328.3:c.1905+990_1905+1013dup	NP_000319.1:n.1905+990_1905+1013dup
NM_001034853.2:c.2895_2918dup MANE Select	NP_001030025.1:p.Glu973_Gly974insGlyGluGl...