Canonical Allele Identifier: CA2571345851

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1802370
• ClinVar RCV Id: RCV002465183 ; RCV002569347
• gnomAD v4: X-38286241-TCCCTTCTCCTTCCTCCTCTTCTCCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286257_38286283del , CM000685.2:g.38286257_38286283del	GRCh38
NC_000023.10:g.38145510_38145536del , CM000685.1:g.38145510_38145536del	GRCh37
NC_000023.9:g.38030454_38030480del	NCBI36
NG_009553.1:g.46268_46294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1597_953+1623del
ENST00000642170.1:n.1826+4691_1826+4717del
ENST00000642395.2:c.1905+826_1905+852del	ENSP00000493468.2:n.1905+826_1905+852del
ENST00000642739.1:c.1572+4691_1572+4717del	ENSP00000493596.1:n.1572+4691_1572+4717del
ENST00000644238.1:c.1386+4691_1386+4717del	ENSP00000496728.1:n.1386+4691_1386+4717del
ENST00000644337.1:c.1719+826_1719+852del	ENSP00000494557.1:n.1719+826_1719+852del
ENST00000645032.1:c.2731_2757del MANE Select	ENSP00000495537.1:p.Glu911_Gly919del
ENST00000645124.1:c.*101+826_*101+852del	ENSP00000496446.1:n.*101+826_*101+852del
ENST00000646020.1:c.*594+826_*594+852del	ENSP00000494745.1:n.*594+826_*594+852del
ENST00000318842.11:c.1905+826_1905+852del	ENSP00000322219.6:n.1905+826_1905+852del
ENST00000339363.7:c.2520+826_2520+852del	ENSP00000343671.3:n.2520+826_2520+852del
ENST00000378505.6:c.2731_2757del	ENSP00000367766.2:p.Glu911_Gly919del
ENST00000465127.1:c.172-379864_172-379838del	ENSP00000417050.1:n.172-379864_172-379838del
ENST00000474584.5:c.*37+4691_*37+4717del	ENSP00000418926.1:n.*37+4691_*37+4717del
ENST00000482855.5:c.1905+826_1905+852del	ENSP00000419276.1:n.1905+826_1905+852del
ENST00000494707.5:c.139+4691_139+4717del
NM_000328.2:c.1905+826_1905+852del	NP_000319.1:n.1905+826_1905+852del
NM_001034853.1:c.2731_2757del	NP_001030025.1:p.Glu911_Gly919del
XM_005272633.1:c.1572+4691_1572+4717del	XP_005272690.1:n.1572+4691_1572+4717del
XM_011543940.1:c.1902+826_1902+852del	XP_011542242.1:n.1902+826_1902+852del
XM_005272633.3:c.1572+4691_1572+4717del	XP_005272690.1:n.1572+4691_1572+4717del
XM_011543940.3:c.1902+826_1902+852del	XP_011542242.1:n.1902+826_1902+852del
XM_017029712.2:c.1569+4691_1569+4717del	XP_016885201.1:n.1569+4691_1569+4717del
NM_001367245.1:c.1902+826_1902+852del	NP_001354174.1:n.1902+826_1902+852del
NM_001367246.1:c.1719+826_1719+852del	NP_001354175.1:n.1719+826_1719+852del
NM_001367247.1:c.1572+4691_1572+4717del	NP_001354176.1:n.1572+4691_1572+4717del
NM_001367248.1:c.1602+4691_1602+4717del	NP_001354177.1:n.1602+4691_1602+4717del
NM_001367249.1:c.1569+4691_1569+4717del	NP_001354178.1:n.1569+4691_1569+4717del
NM_001367250.1:c.1569+4691_1569+4717del	NP_001354179.1:n.1569+4691_1569+4717del
NM_001367251.1:c.1386+4691_1386+4717del	NP_001354180.1:n.1386+4691_1386+4717del
NR_159803.1:n.2263+826_2263+852del
NR_159804.1:n.1648+4691_1648+4717del
NR_159805.1:n.1714+4691_1714+4717del
NR_159806.1:n.1866+826_1866+852del
NR_159807.1:n.1622+4691_1622+4717del
NR_159808.1:n.1826+4691_1826+4717del
NM_000328.3:c.1905+826_1905+852del	NP_000319.1:n.1905+826_1905+852del
NM_001034853.2:c.2731_2757del MANE Select	NP_001030025.1:p.Glu911_Gly919del