Canonical Allele Identifier: CA412730178

Gene: RPGR

Linked Data

• dbSNP Id: rs1555961642
• MyVariant Identifiers: chrX:g.38145622_38145627del (hg19) ; chrX:g.38286370_38286375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286371_38286376del , CM000685.2:g.38286371_38286376del	GRCh38
NC_000023.10:g.38145624_38145629del , CM000685.1:g.38145624_38145629del	GRCh37
NC_000023.9:g.38030568_38030573del	NCBI36
NG_009553.1:g.46162_46167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1491_953+1496del
ENST00000642170.1:n.1826+4585_1826+4590del
ENST00000642395.2:c.1905+720_1905+725del	ENSP00000493468.2:n.1905+720_1905+725del
ENST00000642739.1:c.1572+4585_1572+4590del	ENSP00000493596.1:n.1572+4585_1572+4590del
ENST00000644238.1:c.1386+4585_1386+4590del	ENSP00000496728.1:n.1386+4585_1386+4590del
ENST00000644337.1:c.1719+720_1719+725del	ENSP00000494557.1:n.1719+720_1719+725del
ENST00000645032.1:c.2625_2630del MANE Select	ENSP00000495537.1:p.Gly876_Glu877del
ENST00000645124.1:c.*101+720_*101+725del	ENSP00000496446.1:n.*101+720_*101+725del
ENST00000646020.1:c.*594+720_*594+725del	ENSP00000494745.1:n.*594+720_*594+725del
ENST00000318842.11:c.1905+720_1905+725del	ENSP00000322219.6:n.1905+720_1905+725del
ENST00000339363.7:c.2520+720_2520+725del	ENSP00000343671.3:n.2520+720_2520+725del
ENST00000378505.6:c.2625_2630del	ENSP00000367766.2:p.Gly876_Glu877del
ENST00000465127.1:c.172-379750_172-379745del	ENSP00000417050.1:n.172-379750_172-379745del
ENST00000474584.5:c.*37+4585_*37+4590del	ENSP00000418926.1:n.*37+4585_*37+4590del
ENST00000482855.5:c.1905+720_1905+725del	ENSP00000419276.1:n.1905+720_1905+725del
ENST00000494707.5:c.139+4585_139+4590del
NM_000328.2:c.1905+720_1905+725del	NP_000319.1:n.1905+720_1905+725del
NM_001034853.1:c.2625_2630del	NP_001030025.1:p.Gly876_Glu877del
XM_005272633.1:c.1572+4585_1572+4590del	XP_005272690.1:n.1572+4585_1572+4590del
XM_011543940.1:c.1902+720_1902+725del	XP_011542242.1:n.1902+720_1902+725del
XM_005272633.3:c.1572+4585_1572+4590del	XP_005272690.1:n.1572+4585_1572+4590del
XM_011543940.3:c.1902+720_1902+725del	XP_011542242.1:n.1902+720_1902+725del
XM_017029712.2:c.1569+4585_1569+4590del	XP_016885201.1:n.1569+4585_1569+4590del
NM_001367245.1:c.1902+720_1902+725del	NP_001354174.1:n.1902+720_1902+725del
NM_001367246.1:c.1719+720_1719+725del	NP_001354175.1:n.1719+720_1719+725del
NM_001367247.1:c.1572+4585_1572+4590del	NP_001354176.1:n.1572+4585_1572+4590del
NM_001367248.1:c.1602+4585_1602+4590del	NP_001354177.1:n.1602+4585_1602+4590del
NM_001367249.1:c.1569+4585_1569+4590del	NP_001354178.1:n.1569+4585_1569+4590del
NM_001367250.1:c.1569+4585_1569+4590del	NP_001354179.1:n.1569+4585_1569+4590del
NM_001367251.1:c.1386+4585_1386+4590del	NP_001354180.1:n.1386+4585_1386+4590del
NR_159803.1:n.2263+720_2263+725del
NR_159804.1:n.1648+4585_1648+4590del
NR_159805.1:n.1714+4585_1714+4590del
NR_159806.1:n.1866+720_1866+725del
NR_159807.1:n.1622+4585_1622+4590del
NR_159808.1:n.1826+4585_1826+4590del
NM_000328.3:c.1905+720_1905+725del	NP_000319.1:n.1905+720_1905+725del
NM_001034853.2:c.2625_2630del MANE Select	NP_001030025.1:p.Gly876_Glu877del