Canonical Allele Identifier: CA226450

Gene: RPGR

Linked Data

• ClinVar Variation Id: 98804
• ClinVar RCV Id: RCV000085127
• dbSNP Id: rs62640586
• MyVariant Identifiers: chrX:g.38163987_38163988del (hg19) ; chrX:g.38304734_38304735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38304734_38304735del , CM000685.2:g.38304734_38304735del	GRCh38
NC_000023.10:g.38163987_38163988del , CM000685.1:g.38163987_38163988del	GRCh37
NC_000023.9:g.38048931_38048932del	NCBI36
NG_009553.1:g.27803_27804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.40_41del
ENST00000642170.1:n.1189-3362_1189-3361del
ENST00000642373.1:c.*415_*416del	ENSP00000496030.1:n.*415_*416del
ENST00000642395.2:c.836_837del	ENSP00000493468.2:p.Phe279SerfsTer3
ENST00000642558.1:c.743_744del	ENSP00000496427.1:p.Phe248SerfsTer3
ENST00000642739.1:c.836_837del	ENSP00000493596.1:p.Phe279SerfsTer3
ENST00000644238.1:c.836_837del	ENSP00000496728.1:p.Phe279SerfsTer3
ENST00000644337.1:c.836_837del	ENSP00000494557.1:p.Phe279SerfsTer3
ENST00000645032.1:c.836_837del MANE Select	ENSP00000495537.1:p.Phe279SerfsTer3
ENST00000645124.1:c.836_837del	ENSP00000496446.1:p.Phe279SerfsTer3
ENST00000646020.1:c.836_837del	ENSP00000494745.1:p.Phe279SerfsTer3
ENST00000647261.1:c.836_837del	ENSP00000493681.1:p.Phe279SerfsTer3
ENST00000318842.11:c.836_837del	ENSP00000322219.6:p.Phe279SerfsTer3
ENST00000339363.7:c.836_837del	ENSP00000343671.3:p.Phe279SerfsTer3
ENST00000378505.6:c.836_837del	ENSP00000367766.2:p.Phe279SerfsTer3
ENST00000465127.1:c.172-361387_172-361386del	ENSP00000417050.1:n.172-361387_172-361386del
ENST00000474584.5:c.836_837del	ENSP00000418926.1:p.Phe279SerfsTer3
ENST00000482855.5:c.836_837del	ENSP00000419276.1:p.Phe279SerfsTer3
ENST00000494841.1:n.99_100del
NM_000328.2:c.836_837del	NP_000319.1:p.Phe279SerfsTer3
NM_001034853.1:c.836_837del	NP_001030025.1:p.Phe279SerfsTer3
XM_005272633.1:c.836_837del	XP_005272690.1:p.Phe279SerfsTer3
XM_011543940.1:c.833_834del	XP_011542242.1:p.Phe278SerfsTer3
XM_005272633.3:c.836_837del	XP_005272690.1:p.Phe279SerfsTer3
XM_011543940.3:c.833_834del	XP_011542242.1:p.Phe278SerfsTer3
XM_017029712.2:c.833_834del	XP_016885201.1:p.Phe278SerfsTer3
NM_001367245.1:c.833_834del	NP_001354174.1:p.Phe278SerfsTer3
NM_001367246.1:c.836_837del	NP_001354175.1:p.Phe279SerfsTer3
NM_001367247.1:c.836_837del	NP_001354176.1:p.Phe279SerfsTer3
NM_001367248.1:c.866_867del	NP_001354177.1:p.Phe289SerfsTer3
NM_001367249.1:c.833_834del	NP_001354178.1:p.Phe278SerfsTer3
NM_001367250.1:c.833_834del	NP_001354179.1:p.Phe278SerfsTer3
NM_001367251.1:c.836_837del	NP_001354180.1:p.Phe279SerfsTer3
NR_159803.1:n.978_979del
NR_159804.1:n.887_888del
NR_159805.1:n.978_979del
NR_159806.1:n.978_979del
NR_159807.1:n.978_979del
NR_159808.1:n.1189-3362_1189-3361del
NM_000328.3:c.836_837del	NP_000319.1:p.Phe279SerfsTer3
NM_001034853.2:c.836_837del MANE Select	NP_001030025.1:p.Phe279SerfsTer3