Canonical Allele Identifier: CA412740004

Gene: RPGR

Linked Data

• ClinVar Variation Id: 1400306
• ClinVar RCV Id: RCV001918129
• dbSNP Id: rs1357261084
• gnomAD v3: X-38299098-TGAG-T
• gnomAD v4: X-38299098-TGAG-T
• MyVariant Identifiers: chrX:g.38158352_38158354del (hg19) ; chrX:g.38299100_38299102del (hg38) ; chrX:g.38299099_38299101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38299102_38299104del , CM000685.2:g.38299102_38299104del	GRCh38
NC_000023.10:g.38158355_38158357del , CM000685.1:g.38158355_38158357del	GRCh37
NC_000023.9:g.38043299_38043301del	NCBI36
NG_009553.1:g.33435_33437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.304_306del
ENST00000642170.1:n.1354_1356del
ENST00000642395.2:c.1100_1102del	ENSP00000493468.2:p.Pro367del
ENST00000642558.1:c.1007_1009del	ENSP00000496427.1:p.Pro336del
ENST00000642739.1:c.1100_1102del	ENSP00000493596.1:p.Pro367del
ENST00000644238.1:c.1060-1649_1060-1647del	ENSP00000496728.1:n.1060-1649_1060-1647del
ENST00000644337.1:c.1060-1649_1060-1647del	ENSP00000494557.1:n.1060-1649_1060-1647del
ENST00000645032.1:c.1100_1102del MANE Select	ENSP00000495537.1:p.Pro367del
ENST00000645124.1:c.1100_1102del	ENSP00000496446.1:p.Pro367del
ENST00000646020.1:c.1160_1162del	ENSP00000494745.1:p.Pro387del
ENST00000318842.11:c.1100_1102del	ENSP00000322219.6:p.Pro367del
ENST00000339363.7:c.1100_1102del	ENSP00000343671.3:p.Pro367del
ENST00000378505.6:c.1100_1102del	ENSP00000367766.2:p.Pro367del
ENST00000464437.1:c.166_168del
ENST00000465127.1:c.172-367019_172-367017del	ENSP00000417050.1:n.172-367019_172-367017del
ENST00000474584.5:c.1100_1102del	ENSP00000418926.1:p.Pro367del
ENST00000482855.5:c.1100_1102del	ENSP00000419276.1:p.Pro367del
ENST00000494841.1:n.363_365del
NM_000328.2:c.1100_1102del	NP_000319.1:p.Pro367del
NM_001034853.1:c.1100_1102del	NP_001030025.1:p.Pro367del
XM_005272633.1:c.1100_1102del	XP_005272690.1:p.Pro367del
XM_011543940.1:c.1097_1099del	XP_011542242.1:p.Pro366del
XM_005272633.3:c.1100_1102del	XP_005272690.1:p.Pro367del
XM_011543940.3:c.1097_1099del	XP_011542242.1:p.Pro366del
XM_017029712.2:c.1097_1099del	XP_016885201.1:p.Pro366del
NM_001367245.1:c.1097_1099del	NP_001354174.1:p.Pro366del
NM_001367246.1:c.1060-1649_1060-1647del	NP_001354175.1:n.1060-1649_1060-1647del
NM_001367247.1:c.1100_1102del	NP_001354176.1:p.Pro367del
NM_001367248.1:c.1130_1132del	NP_001354177.1:p.Pro377del
NM_001367249.1:c.1097_1099del	NP_001354178.1:p.Pro366del
NM_001367250.1:c.1097_1099del	NP_001354179.1:p.Pro366del
NM_001367251.1:c.1060-1649_1060-1647del	NP_001354180.1:n.1060-1649_1060-1647del
NR_159803.1:n.1302_1304del
NR_159804.1:n.1151_1153del
NR_159805.1:n.1242_1244del
NR_159806.1:n.1242_1244del
NR_159807.1:n.1242_1244del
NR_159808.1:n.1354_1356del
NM_000328.3:c.1100_1102del	NP_000319.1:p.Pro367del
NM_001034853.2:c.1100_1102del MANE Select	NP_001030025.1:p.Pro367del