Canonical Allele Identifier: CA640957107

Gene: RPGR

Linked Data

• dbSNP Id: rs1366547704
• gnomAD v2: X-38145322-CCTT-C
• gnomAD v3: X-38286069-CCTT-C
• gnomAD v4: X-38286069-CCTT-C
• MyVariant Identifiers: chrX:g.38145323_38145325del (hg19) ; chrX:g.38286070_38286072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286071_38286073del , CM000685.2:g.38286071_38286073del	GRCh38
NC_000023.10:g.38145324_38145326del , CM000685.1:g.38145324_38145326del	GRCh37
NC_000023.9:g.38030268_38030270del	NCBI36
NG_009553.1:g.46464_46466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1793_953+1795del
ENST00000642170.1:n.1826+4887_1826+4889del
ENST00000642395.2:c.1905+1022_1905+1024del	ENSP00000493468.2:n.1905+1022_1905+1024del
ENST00000642739.1:c.1572+4887_1572+4889del	ENSP00000493596.1:n.1572+4887_1572+4889del
ENST00000644238.1:c.1386+4887_1386+4889del	ENSP00000496728.1:n.1386+4887_1386+4889del
ENST00000644337.1:c.1719+1022_1719+1024del	ENSP00000494557.1:n.1719+1022_1719+1024del
ENST00000645032.1:c.2927_2929del MANE Select	ENSP00000495537.1:p.Glu976del
ENST00000645124.1:c.*101+1022_*101+1024del	ENSP00000496446.1:n.*101+1022_*101+1024del
ENST00000646020.1:c.*594+1022_*594+1024del	ENSP00000494745.1:n.*594+1022_*594+1024del
ENST00000318842.11:c.1905+1022_1905+1024del	ENSP00000322219.6:n.1905+1022_1905+1024del
ENST00000339363.7:c.2520+1022_2520+1024del	ENSP00000343671.3:n.2520+1022_2520+1024del
ENST00000378505.6:c.2927_2929del	ENSP00000367766.2:p.Glu976del
ENST00000465127.1:c.172-380050_172-380048del	ENSP00000417050.1:n.172-380050_172-380048del
ENST00000474584.5:c.*37+4887_*37+4889del	ENSP00000418926.1:n.*37+4887_*37+4889del
ENST00000482855.5:c.1905+1022_1905+1024del	ENSP00000419276.1:n.1905+1022_1905+1024del
ENST00000494707.5:c.139+4887_139+4889del
NM_000328.2:c.1905+1022_1905+1024del	NP_000319.1:n.1905+1022_1905+1024del
NM_001034853.1:c.2927_2929del	NP_001030025.1:p.Glu976del
XM_005272633.1:c.1572+4887_1572+4889del	XP_005272690.1:n.1572+4887_1572+4889del
XM_011543940.1:c.1902+1022_1902+1024del	XP_011542242.1:n.1902+1022_1902+1024del
XM_005272633.3:c.1572+4887_1572+4889del	XP_005272690.1:n.1572+4887_1572+4889del
XM_011543940.3:c.1902+1022_1902+1024del	XP_011542242.1:n.1902+1022_1902+1024del
XM_017029712.2:c.1569+4887_1569+4889del	XP_016885201.1:n.1569+4887_1569+4889del
NM_001367245.1:c.1902+1022_1902+1024del	NP_001354174.1:n.1902+1022_1902+1024del
NM_001367246.1:c.1719+1022_1719+1024del	NP_001354175.1:n.1719+1022_1719+1024del
NM_001367247.1:c.1572+4887_1572+4889del	NP_001354176.1:n.1572+4887_1572+4889del
NM_001367248.1:c.1602+4887_1602+4889del	NP_001354177.1:n.1602+4887_1602+4889del
NM_001367249.1:c.1569+4887_1569+4889del	NP_001354178.1:n.1569+4887_1569+4889del
NM_001367250.1:c.1569+4887_1569+4889del	NP_001354179.1:n.1569+4887_1569+4889del
NM_001367251.1:c.1386+4887_1386+4889del	NP_001354180.1:n.1386+4887_1386+4889del
NR_159803.1:n.2263+1022_2263+1024del
NR_159804.1:n.1648+4887_1648+4889del
NR_159805.1:n.1714+4887_1714+4889del
NR_159806.1:n.1866+1022_1866+1024del
NR_159807.1:n.1622+4887_1622+4889del
NR_159808.1:n.1826+4887_1826+4889del
NM_000328.3:c.1905+1022_1905+1024del	NP_000319.1:n.1905+1022_1905+1024del
NM_001034853.2:c.2927_2929del MANE Select	NP_001030025.1:p.Glu976del