Canonical Allele Identifier: CA226391

Gene: RPGR

Linked Data

• ClinVar Variation Id: 98762
• ClinVar RCV Id: RCV000085081
• dbSNP Id: rs281865313
• MyVariant Identifiers: chrX:g.38128952_38128970del (hg19) ; chrX:g.38269699_38269717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38269700_38269718del , CM000685.2:g.38269700_38269718del	GRCh38
NC_000023.10:g.38128953_38128971del , CM000685.1:g.38128953_38128971del	GRCh37
NC_000023.9:g.38013897_38013915del	NCBI36
NG_009553.1:g.62819_62837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642170.1:n.2557_2575del
ENST00000642395.2:c.2357_2375del	ENSP00000493468.2:p.Lys786ThrfsTer2
ENST00000642739.1:c.*281_*299del	ENSP00000493596.1:n.*281_*299del
ENST00000644238.1:c.1838_1856del	ENSP00000496728.1:p.Lys613ThrfsTer2
ENST00000644337.1:c.2171_2189del	ENSP00000494557.1:p.Lys724ThrfsTer2
ENST00000645124.1:c.*553_*571del	ENSP00000496446.1:n.*553_*571del
ENST00000646020.1:c.*1046_*1064del	ENSP00000494745.1:n.*1046_*1064del
ENST00000318842.11:c.2357_2375del	ENSP00000322219.6:p.Lys786ThrfsTer2
ENST00000339363.7:c.2972_2990del	ENSP00000343671.3:p.Lys991ThrfsTer2
ENST00000465127.1:c.172-396421_172-396403del	ENSP00000417050.1:n.172-396421_172-396403del
ENST00000474584.5:c.*489_*507del	ENSP00000418926.1:n.*489_*507del
ENST00000476559.2:n.673_691del
ENST00000482855.5:c.*455_*473del	ENSP00000419276.1:n.*455_*473del
NM_000328.2:c.2357_2375del	NP_000319.1:p.Lys786ThrfsTer2
XM_005272633.1:c.2024_2042del	XP_005272690.1:p.Lys675ThrfsTer2
XM_011543940.1:c.2354_2372del	XP_011542242.1:p.Lys785ThrfsTer2
XM_005272633.3:c.2024_2042del	XP_005272690.1:p.Lys675ThrfsTer2
XM_011543940.3:c.2354_2372del	XP_011542242.1:p.Lys785ThrfsTer2
XM_017029712.2:c.2021_2039del	XP_016885201.1:p.Lys674ThrfsTer2
NM_001367245.1:c.2354_2372del	NP_001354174.1:p.Lys785ThrfsTer2
NM_001367246.1:c.2171_2189del	NP_001354175.1:p.Lys724ThrfsTer2
NM_001367247.1:c.2024_2042del	NP_001354176.1:p.Lys675ThrfsTer2
NM_001367248.1:c.2054_2072del	NP_001354177.1:p.Lys685ThrfsTer2
NM_001367249.1:c.2021_2039del	NP_001354178.1:p.Lys674ThrfsTer2
NM_001367250.1:c.2021_2039del	NP_001354179.1:p.Lys674ThrfsTer2
NM_001367251.1:c.1838_1856del	NP_001354180.1:p.Lys613ThrfsTer2
NR_159803.1:n.2715_2733del
NR_159804.1:n.2100_2118del
NR_159805.1:n.2445_2463del
NR_159806.1:n.2318_2336del
NR_159807.1:n.2074_2092del
NR_159808.1:n.2557_2575del
NM_000328.3:c.2357_2375del	NP_000319.1:p.Lys786ThrfsTer2