Canonical Allele Identifier: CA875124842

Gene: RPGR

Linked Data

• dbSNP Id: rs1292428420
• gnomAD v3: X-38286066-TCTC-T
• gnomAD v4: X-38286066-TCTC-T
• MyVariant Identifiers: chrX:g.38145320_38145322del (hg19) ; chrX:g.38286067_38286069del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286069_38286071del , CM000685.2:g.38286069_38286071del	GRCh38
NC_000023.10:g.38145322_38145324del , CM000685.1:g.38145322_38145324del	GRCh37
NC_000023.9:g.38030266_38030268del	NCBI36
NG_009553.1:g.46467_46469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1796_953+1798del
ENST00000642170.1:n.1826+4890_1826+4892del
ENST00000642395.2:c.1905+1025_1905+1027del	ENSP00000493468.2:n.1905+1025_1905+1027del
ENST00000642739.1:c.1572+4890_1572+4892del	ENSP00000493596.1:n.1572+4890_1572+4892del
ENST00000644238.1:c.1386+4890_1386+4892del	ENSP00000496728.1:n.1386+4890_1386+4892del
ENST00000644337.1:c.1719+1025_1719+1027del	ENSP00000494557.1:n.1719+1025_1719+1027del
ENST00000645032.1:c.2930_2932del MANE Select	ENSP00000495537.1:p.Gly977del
ENST00000645124.1:c.*101+1025_*101+1027del	ENSP00000496446.1:n.*101+1025_*101+1027del
ENST00000646020.1:c.*594+1025_*594+1027del	ENSP00000494745.1:n.*594+1025_*594+1027del
ENST00000318842.11:c.1905+1025_1905+1027del	ENSP00000322219.6:n.1905+1025_1905+1027del
ENST00000339363.7:c.2520+1025_2520+1027del	ENSP00000343671.3:n.2520+1025_2520+1027del
ENST00000378505.6:c.2930_2932del	ENSP00000367766.2:p.Gly977del
ENST00000465127.1:c.172-380052_172-380050del	ENSP00000417050.1:n.172-380052_172-380050del
ENST00000474584.5:c.*37+4890_*37+4892del	ENSP00000418926.1:n.*37+4890_*37+4892del
ENST00000482855.5:c.1905+1025_1905+1027del	ENSP00000419276.1:n.1905+1025_1905+1027del
ENST00000494707.5:c.139+4890_139+4892del
NM_000328.2:c.1905+1025_1905+1027del	NP_000319.1:n.1905+1025_1905+1027del
NM_001034853.1:c.2930_2932del	NP_001030025.1:p.Gly977del
XM_005272633.1:c.1572+4890_1572+4892del	XP_005272690.1:n.1572+4890_1572+4892del
XM_011543940.1:c.1902+1025_1902+1027del	XP_011542242.1:n.1902+1025_1902+1027del
XM_005272633.3:c.1572+4890_1572+4892del	XP_005272690.1:n.1572+4890_1572+4892del
XM_011543940.3:c.1902+1025_1902+1027del	XP_011542242.1:n.1902+1025_1902+1027del
XM_017029712.2:c.1569+4890_1569+4892del	XP_016885201.1:n.1569+4890_1569+4892del
NM_001367245.1:c.1902+1025_1902+1027del	NP_001354174.1:n.1902+1025_1902+1027del
NM_001367246.1:c.1719+1025_1719+1027del	NP_001354175.1:n.1719+1025_1719+1027del
NM_001367247.1:c.1572+4890_1572+4892del	NP_001354176.1:n.1572+4890_1572+4892del
NM_001367248.1:c.1602+4890_1602+4892del	NP_001354177.1:n.1602+4890_1602+4892del
NM_001367249.1:c.1569+4890_1569+4892del	NP_001354178.1:n.1569+4890_1569+4892del
NM_001367250.1:c.1569+4890_1569+4892del	NP_001354179.1:n.1569+4890_1569+4892del
NM_001367251.1:c.1386+4890_1386+4892del	NP_001354180.1:n.1386+4890_1386+4892del
NR_159803.1:n.2263+1025_2263+1027del
NR_159804.1:n.1648+4890_1648+4892del
NR_159805.1:n.1714+4890_1714+4892del
NR_159806.1:n.1866+1025_1866+1027del
NR_159807.1:n.1622+4890_1622+4892del
NR_159808.1:n.1826+4890_1826+4892del
NM_000328.3:c.1905+1025_1905+1027del	NP_000319.1:n.1905+1025_1905+1027del
NM_001034853.2:c.2930_2932del MANE Select	NP_001030025.1:p.Gly977del