Canonical Allele Identifier: CA10385238

Gene: RPGR

Linked Data

• ExAC: X:38145354 CCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCT / C
• gnomAD v4: X-38286101-CCCCTCCCCTTCTCCTTCCTCCTCTTCCCCCTCCCATTCTCCTTCCTCCTCTTCCCCCTCCCCTTCTCCATCCTCCCCTTCCCCTTCTCCTTCCTCCT-C
• MyVariant Identifiers: chrX:g.38145355_38145451del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286103_38286199del , CM000685.2:g.38286103_38286199del	GRCh38
NC_000023.10:g.38145356_38145452del , CM000685.1:g.38145356_38145452del	GRCh37
NC_000023.9:g.38030300_38030396del	NCBI36
NG_009553.1:g.46338_46434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1667_953+1763del
ENST00000642170.1:n.1826+4761_1826+4857del
ENST00000642395.2:c.1905+896_1905+992del	ENSP00000493468.2:n.1905+896_1905+992del
ENST00000642739.1:c.1572+4761_1572+4857del	ENSP00000493596.1:n.1572+4761_1572+4857del
ENST00000644238.1:c.1386+4761_1386+4857del	ENSP00000496728.1:n.1386+4761_1386+4857del
ENST00000644337.1:c.1719+896_1719+992del	ENSP00000494557.1:n.1719+896_1719+992del
ENST00000645032.1:c.2801_2897del MANE Select	ENSP00000495537.1:p.Glu934GlyfsTer?
ENST00000645124.1:c.*101+896_*101+992del	ENSP00000496446.1:n.*101+896_*101+992del
ENST00000646020.1:c.*594+896_*594+992del	ENSP00000494745.1:n.*594+896_*594+992del
ENST00000318842.11:c.1905+896_1905+992del	ENSP00000322219.6:n.1905+896_1905+992del
ENST00000339363.7:c.2520+896_2520+992del	ENSP00000343671.3:n.2520+896_2520+992del
ENST00000378505.6:c.2801_2897del	ENSP00000367766.2:p.Glu934GlyfsTer?
ENST00000465127.1:c.172-380018_172-379922del	ENSP00000417050.1:n.172-380018_172-379922del
ENST00000474584.5:c.*37+4761_*37+4857del	ENSP00000418926.1:n.*37+4761_*37+4857del
ENST00000482855.5:c.1905+896_1905+992del	ENSP00000419276.1:n.1905+896_1905+992del
ENST00000494707.5:c.139+4761_139+4857del
NM_000328.2:c.1905+896_1905+992del	NP_000319.1:n.1905+896_1905+992del
NM_001034853.1:c.2801_2897del	NP_001030025.1:p.Glu934GlyfsTer?
XM_005272633.1:c.1572+4761_1572+4857del	XP_005272690.1:n.1572+4761_1572+4857del
XM_011543940.1:c.1902+896_1902+992del	XP_011542242.1:n.1902+896_1902+992del
XM_005272633.3:c.1572+4761_1572+4857del	XP_005272690.1:n.1572+4761_1572+4857del
XM_011543940.3:c.1902+896_1902+992del	XP_011542242.1:n.1902+896_1902+992del
XM_017029712.2:c.1569+4761_1569+4857del	XP_016885201.1:n.1569+4761_1569+4857del
NM_001367245.1:c.1902+896_1902+992del	NP_001354174.1:n.1902+896_1902+992del
NM_001367246.1:c.1719+896_1719+992del	NP_001354175.1:n.1719+896_1719+992del
NM_001367247.1:c.1572+4761_1572+4857del	NP_001354176.1:n.1572+4761_1572+4857del
NM_001367248.1:c.1602+4761_1602+4857del	NP_001354177.1:n.1602+4761_1602+4857del
NM_001367249.1:c.1569+4761_1569+4857del	NP_001354178.1:n.1569+4761_1569+4857del
NM_001367250.1:c.1569+4761_1569+4857del	NP_001354179.1:n.1569+4761_1569+4857del
NM_001367251.1:c.1386+4761_1386+4857del	NP_001354180.1:n.1386+4761_1386+4857del
NR_159803.1:n.2263+896_2263+992del
NR_159804.1:n.1648+4761_1648+4857del
NR_159805.1:n.1714+4761_1714+4857del
NR_159806.1:n.1866+896_1866+992del
NR_159807.1:n.1622+4761_1622+4857del
NR_159808.1:n.1826+4761_1826+4857del
NM_000328.3:c.1905+896_1905+992del	NP_000319.1:n.1905+896_1905+992del
NM_001034853.2:c.2801_2897del MANE Select	NP_001030025.1:p.Glu934GlyfsTer?