Canonical Allele Identifier: CA10385210

Gene: RPGR

Linked Data

• dbSNP Id: rs1569235450
• ExAC: X:38145178 ACCTCCCCTTCCACTTCCCCTTCCTCTTCTTCCTCCCCTTCTCCCTCCCCTTCTTCCTCTCCCTCTCCTTCTT / A
• gnomAD v2: X-38145178-ACCTCCCCTTCCACTTCCCCTTCCTCTTCTTCCTCCCCTTCTCCCTCCCCTTCTTCCTCTCCCTCTCCTTCTT-A
• MyVariant Identifiers: chrX:g.38145179_38145250del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285936_38286007del , CM000685.2:g.38285936_38286007del	GRCh38
NC_000023.10:g.38145189_38145260del , CM000685.1:g.38145189_38145260del	GRCh37
NC_000023.9:g.38030133_38030204del	NCBI36
NG_009553.1:g.46539_46610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1868_953+1939del
ENST00000642170.1:n.1826+4962_1826+5033del
ENST00000642395.2:c.1905+1097_1905+1168del	ENSP00000493468.2:n.1905+1097_1905+1168del
ENST00000642739.1:c.1572+4962_1572+5033del	ENSP00000493596.1:n.1572+4962_1572+5033del
ENST00000644238.1:c.1386+4962_1386+5033del	ENSP00000496728.1:n.1386+4962_1386+5033del
ENST00000644337.1:c.1719+1097_1719+1168del	ENSP00000494557.1:n.1719+1097_1719+1168del
ENST00000645032.1:c.3002_3073del MANE Select	ENSP00000495537.1:p.Glu1001_Glu1024del
ENST00000645124.1:c.*101+1097_*101+1168del	ENSP00000496446.1:n.*101+1097_*101+1168del
ENST00000646020.1:c.*594+1097_*594+1168del	ENSP00000494745.1:n.*594+1097_*594+1168del
ENST00000318842.11:c.1905+1097_1905+1168del	ENSP00000322219.6:n.1905+1097_1905+1168del
ENST00000339363.7:c.2520+1097_2520+1168del	ENSP00000343671.3:n.2520+1097_2520+1168del
ENST00000378505.6:c.3002_3073del	ENSP00000367766.2:p.Glu1001_Glu1024del
ENST00000465127.1:c.172-380185_172-380114del	ENSP00000417050.1:n.172-380185_172-380114del
ENST00000474584.5:c.*37+4962_*37+5033del	ENSP00000418926.1:n.*37+4962_*37+5033del
ENST00000482855.5:c.1905+1097_1905+1168del	ENSP00000419276.1:n.1905+1097_1905+1168del
ENST00000494707.5:c.139+4962_139+5033del
NM_000328.2:c.1905+1097_1905+1168del	NP_000319.1:n.1905+1097_1905+1168del
NM_001034853.1:c.3002_3073del	NP_001030025.1:p.Glu1001_Glu1024del
XM_005272633.1:c.1572+4962_1572+5033del	XP_005272690.1:n.1572+4962_1572+5033del
XM_011543940.1:c.1902+1097_1902+1168del	XP_011542242.1:n.1902+1097_1902+1168del
XM_005272633.3:c.1572+4962_1572+5033del	XP_005272690.1:n.1572+4962_1572+5033del
XM_011543940.3:c.1902+1097_1902+1168del	XP_011542242.1:n.1902+1097_1902+1168del
XM_017029712.2:c.1569+4962_1569+5033del	XP_016885201.1:n.1569+4962_1569+5033del
NM_001367245.1:c.1902+1097_1902+1168del	NP_001354174.1:n.1902+1097_1902+1168del
NM_001367246.1:c.1719+1097_1719+1168del	NP_001354175.1:n.1719+1097_1719+1168del
NM_001367247.1:c.1572+4962_1572+5033del	NP_001354176.1:n.1572+4962_1572+5033del
NM_001367248.1:c.1602+4962_1602+5033del	NP_001354177.1:n.1602+4962_1602+5033del
NM_001367249.1:c.1569+4962_1569+5033del	NP_001354178.1:n.1569+4962_1569+5033del
NM_001367250.1:c.1569+4962_1569+5033del	NP_001354179.1:n.1569+4962_1569+5033del
NM_001367251.1:c.1386+4962_1386+5033del	NP_001354180.1:n.1386+4962_1386+5033del
NR_159803.1:n.2263+1097_2263+1168del
NR_159804.1:n.1648+4962_1648+5033del
NR_159805.1:n.1714+4962_1714+5033del
NR_159806.1:n.1866+1097_1866+1168del
NR_159807.1:n.1622+4962_1622+5033del
NR_159808.1:n.1826+4962_1826+5033del
NM_000328.3:c.1905+1097_1905+1168del	NP_000319.1:n.1905+1097_1905+1168del
NM_001034853.2:c.3002_3073del MANE Select	NP_001030025.1:p.Glu1001_Glu1024del