Canonical Allele Identifier: CA10385200

Gene: RPGR

Linked Data

• ClinVar Variation Id: 3016537
• ClinVar RCV Id: RCV003878672
• dbSNP Id: rs778085735
• ExAC: X:38145145 TCCTCTCCTTCCC / T
• gnomAD v3: X-38285892-TCCTCTCCTTCCC-T
• gnomAD v4: X-38285892-TCCTCTCCTTCCC-T
• MyVariant Identifiers: chrX:g.38145146_38145157del (hg19) ; chrX:g.38285893_38285904del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285904_38285915del , CM000685.2:g.38285904_38285915del	GRCh38
NC_000023.10:g.38145157_38145168del , CM000685.1:g.38145157_38145168del	GRCh37
NC_000023.9:g.38030101_38030112del	NCBI36
NG_009553.1:g.46632_46643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1961_953+1972del
ENST00000642170.1:n.1826+5055_1826+5066del
ENST00000642395.2:c.1905+1190_1905+1201del	ENSP00000493468.2:n.1905+1190_1905+1201del
ENST00000642739.1:c.1572+5055_1572+5066del	ENSP00000493596.1:n.1572+5055_1572+5066del
ENST00000644238.1:c.1386+5055_1386+5066del	ENSP00000496728.1:n.1386+5055_1386+5066del
ENST00000644337.1:c.1719+1190_1719+1201del	ENSP00000494557.1:n.1719+1190_1719+1201del
ENST00000645032.1:c.3095_3106del MANE Select	ENSP00000495537.1:p.Gly1032_Glu1035del
ENST00000645124.1:c.*101+1190_*101+1201del	ENSP00000496446.1:n.*101+1190_*101+1201del
ENST00000646020.1:c.*594+1190_*594+1201del	ENSP00000494745.1:n.*594+1190_*594+1201del
ENST00000318842.11:c.1905+1190_1905+1201del	ENSP00000322219.6:n.1905+1190_1905+1201del
ENST00000339363.7:c.2520+1190_2520+1201del	ENSP00000343671.3:n.2520+1190_2520+1201del
ENST00000378505.6:c.3095_3106del	ENSP00000367766.2:p.Gly1032_Glu1035del
ENST00000465127.1:c.172-380217_172-380206del	ENSP00000417050.1:n.172-380217_172-380206del
ENST00000474584.5:c.*37+5055_*37+5066del	ENSP00000418926.1:n.*37+5055_*37+5066del
ENST00000482855.5:c.1905+1190_1905+1201del	ENSP00000419276.1:n.1905+1190_1905+1201del
ENST00000494707.5:c.139+5055_139+5066del
NM_000328.2:c.1905+1190_1905+1201del	NP_000319.1:n.1905+1190_1905+1201del
NM_001034853.1:c.3095_3106del	NP_001030025.1:p.Gly1032_Glu1035del
XM_005272633.1:c.1572+5055_1572+5066del	XP_005272690.1:n.1572+5055_1572+5066del
XM_011543940.1:c.1902+1190_1902+1201del	XP_011542242.1:n.1902+1190_1902+1201del
XM_005272633.3:c.1572+5055_1572+5066del	XP_005272690.1:n.1572+5055_1572+5066del
XM_011543940.3:c.1902+1190_1902+1201del	XP_011542242.1:n.1902+1190_1902+1201del
XM_017029712.2:c.1569+5055_1569+5066del	XP_016885201.1:n.1569+5055_1569+5066del
NM_001367245.1:c.1902+1190_1902+1201del	NP_001354174.1:n.1902+1190_1902+1201del
NM_001367246.1:c.1719+1190_1719+1201del	NP_001354175.1:n.1719+1190_1719+1201del
NM_001367247.1:c.1572+5055_1572+5066del	NP_001354176.1:n.1572+5055_1572+5066del
NM_001367248.1:c.1602+5055_1602+5066del	NP_001354177.1:n.1602+5055_1602+5066del
NM_001367249.1:c.1569+5055_1569+5066del	NP_001354178.1:n.1569+5055_1569+5066del
NM_001367250.1:c.1569+5055_1569+5066del	NP_001354179.1:n.1569+5055_1569+5066del
NM_001367251.1:c.1386+5055_1386+5066del	NP_001354180.1:n.1386+5055_1386+5066del
NR_159803.1:n.2263+1190_2263+1201del
NR_159804.1:n.1648+5055_1648+5066del
NR_159805.1:n.1714+5055_1714+5066del
NR_159806.1:n.1866+1190_1866+1201del
NR_159807.1:n.1622+5055_1622+5066del
NR_159808.1:n.1826+5055_1826+5066del
NM_000328.3:c.1905+1190_1905+1201del	NP_000319.1:n.1905+1190_1905+1201del
NM_001034853.2:c.3095_3106del MANE Select	NP_001030025.1:p.Gly1032_Glu1035del