Canonical Allele Identifier: CA412730195

Gene: RPGR

Linked Data

• dbSNP Id: rs1555961651
• gnomAD v4: X-38286374-T-TTGG
• MyVariant Identifiers: chrX:g.38145627_38145628insTGG (hg19) ; chrX:g.38286374_38286375insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286375_38286376insGGT , CM000685.2:g.38286375_38286376insGGT	GRCh38
NC_000023.10:g.38145628_38145629insGGT , CM000685.1:g.38145628_38145629insGGT	GRCh37
NC_000023.9:g.38030572_38030573insGGT	NCBI36
NG_009553.1:g.46161_46162insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1490_953+1491insCCA
ENST00000642170.1:n.1826+4584_1826+4585insCCA
ENST00000642395.2:c.1905+719_1905+720insCCA	ENSP00000493468.2:n.1905+719_1905+720insCCA
ENST00000642739.1:c.1572+4584_1572+4585insCCA	ENSP00000493596.1:n.1572+4584_1572+4585insCCA
ENST00000644238.1:c.1386+4584_1386+4585insCCA	ENSP00000496728.1:n.1386+4584_1386+4585insCCA
ENST00000644337.1:c.1719+719_1719+720insCCA	ENSP00000494557.1:n.1719+719_1719+720insCCA
ENST00000645032.1:c.2624_2625insCCA MANE Select	ENSP00000495537.1:p.Glu875delinsAspGln
ENST00000645124.1:c.*101+719_*101+720insCCA	ENSP00000496446.1:n.*101+719_*101+720insCCA
ENST00000646020.1:c.*594+719_*594+720insCCA	ENSP00000494745.1:n.*594+719_*594+720insCCA
ENST00000318842.11:c.1905+719_1905+720insCCA	ENSP00000322219.6:n.1905+719_1905+720insCCA
ENST00000339363.7:c.2520+719_2520+720insCCA	ENSP00000343671.3:n.2520+719_2520+720insCCA
ENST00000378505.6:c.2624_2625insCCA	ENSP00000367766.2:p.Glu875delinsAspGln
ENST00000465127.1:c.172-379746_172-379745insGGT	ENSP00000417050.1:n.172-379746_172-379745insGGT
ENST00000474584.5:c.*37+4584_*37+4585insCCA	ENSP00000418926.1:n.*37+4584_*37+4585insCCA
ENST00000482855.5:c.1905+719_1905+720insCCA	ENSP00000419276.1:n.1905+719_1905+720insCCA
ENST00000494707.5:c.139+4584_139+4585insCCA
NM_000328.2:c.1905+719_1905+720insCCA	NP_000319.1:n.1905+719_1905+720insCCA
NM_001034853.1:c.2624_2625insCCA	NP_001030025.1:p.Glu875delinsAspGln
XM_005272633.1:c.1572+4584_1572+4585insCCA	XP_005272690.1:n.1572+4584_1572+4585insCCA
XM_011543940.1:c.1902+719_1902+720insCCA	XP_011542242.1:n.1902+719_1902+720insCCA
XM_005272633.3:c.1572+4584_1572+4585insCCA	XP_005272690.1:n.1572+4584_1572+4585insCCA
XM_011543940.3:c.1902+719_1902+720insCCA	XP_011542242.1:n.1902+719_1902+720insCCA
XM_017029712.2:c.1569+4584_1569+4585insCCA	XP_016885201.1:n.1569+4584_1569+4585insCCA
NM_001367245.1:c.1902+719_1902+720insCCA	NP_001354174.1:n.1902+719_1902+720insCCA
NM_001367246.1:c.1719+719_1719+720insCCA	NP_001354175.1:n.1719+719_1719+720insCCA
NM_001367247.1:c.1572+4584_1572+4585insCCA	NP_001354176.1:n.1572+4584_1572+4585insCCA
NM_001367248.1:c.1602+4584_1602+4585insCCA	NP_001354177.1:n.1602+4584_1602+4585insCCA
NM_001367249.1:c.1569+4584_1569+4585insCCA	NP_001354178.1:n.1569+4584_1569+4585insCCA
NM_001367250.1:c.1569+4584_1569+4585insCCA	NP_001354179.1:n.1569+4584_1569+4585insCCA
NM_001367251.1:c.1386+4584_1386+4585insCCA	NP_001354180.1:n.1386+4584_1386+4585insCCA
NR_159803.1:n.2263+719_2263+720insCCA
NR_159804.1:n.1648+4584_1648+4585insCCA
NR_159805.1:n.1714+4584_1714+4585insCCA
NR_159806.1:n.1866+719_1866+720insCCA
NR_159807.1:n.1622+4584_1622+4585insCCA
NR_159808.1:n.1826+4584_1826+4585insCCA
NM_000328.3:c.1905+719_1905+720insCCA	NP_000319.1:n.1905+719_1905+720insCCA
NM_001034853.2:c.2624_2625insCCA MANE Select	NP_001030025.1:p.Glu875delinsAspGln