Canonical Allele Identifier: CA640954984

Gene: RPGR

Linked Data

• dbSNP Id: rs1569235404
• gnomAD v2: X-38145160-TCTC-T
• gnomAD v4: X-38285907-TCTC-T
• MyVariant Identifiers: chrX:g.38145161_38145163del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285910_38285912del , CM000685.2:g.38285910_38285912del	GRCh38
NC_000023.10:g.38145163_38145165del , CM000685.1:g.38145163_38145165del	GRCh37
NC_000023.9:g.38030107_38030109del	NCBI36
NG_009553.1:g.46626_46628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1955_953+1957del
ENST00000642170.1:n.1826+5049_1826+5051del
ENST00000642395.2:c.1905+1184_1905+1186del	ENSP00000493468.2:n.1905+1184_1905+1186del
ENST00000642739.1:c.1572+5049_1572+5051del	ENSP00000493596.1:n.1572+5049_1572+5051del
ENST00000644238.1:c.1386+5049_1386+5051del	ENSP00000496728.1:n.1386+5049_1386+5051del
ENST00000644337.1:c.1719+1184_1719+1186del	ENSP00000494557.1:n.1719+1184_1719+1186del
ENST00000645032.1:c.3089_3091del MANE Select	ENSP00000495537.1:p.Gly1030del
ENST00000645124.1:c.*101+1184_*101+1186del	ENSP00000496446.1:n.*101+1184_*101+1186del
ENST00000646020.1:c.*594+1184_*594+1186del	ENSP00000494745.1:n.*594+1184_*594+1186del
ENST00000318842.11:c.1905+1184_1905+1186del	ENSP00000322219.6:n.1905+1184_1905+1186del
ENST00000339363.7:c.2520+1184_2520+1186del	ENSP00000343671.3:n.2520+1184_2520+1186del
ENST00000378505.6:c.3089_3091del	ENSP00000367766.2:p.Gly1030del
ENST00000465127.1:c.172-380211_172-380209del	ENSP00000417050.1:n.172-380211_172-380209del
ENST00000474584.5:c.*37+5049_*37+5051del	ENSP00000418926.1:n.*37+5049_*37+5051del
ENST00000482855.5:c.1905+1184_1905+1186del	ENSP00000419276.1:n.1905+1184_1905+1186del
ENST00000494707.5:c.139+5049_139+5051del
NM_000328.2:c.1905+1184_1905+1186del	NP_000319.1:n.1905+1184_1905+1186del
NM_001034853.1:c.3089_3091del	NP_001030025.1:p.Gly1030del
XM_005272633.1:c.1572+5049_1572+5051del	XP_005272690.1:n.1572+5049_1572+5051del
XM_011543940.1:c.1902+1184_1902+1186del	XP_011542242.1:n.1902+1184_1902+1186del
XM_005272633.3:c.1572+5049_1572+5051del	XP_005272690.1:n.1572+5049_1572+5051del
XM_011543940.3:c.1902+1184_1902+1186del	XP_011542242.1:n.1902+1184_1902+1186del
XM_017029712.2:c.1569+5049_1569+5051del	XP_016885201.1:n.1569+5049_1569+5051del
NM_001367245.1:c.1902+1184_1902+1186del	NP_001354174.1:n.1902+1184_1902+1186del
NM_001367246.1:c.1719+1184_1719+1186del	NP_001354175.1:n.1719+1184_1719+1186del
NM_001367247.1:c.1572+5049_1572+5051del	NP_001354176.1:n.1572+5049_1572+5051del
NM_001367248.1:c.1602+5049_1602+5051del	NP_001354177.1:n.1602+5049_1602+5051del
NM_001367249.1:c.1569+5049_1569+5051del	NP_001354178.1:n.1569+5049_1569+5051del
NM_001367250.1:c.1569+5049_1569+5051del	NP_001354179.1:n.1569+5049_1569+5051del
NM_001367251.1:c.1386+5049_1386+5051del	NP_001354180.1:n.1386+5049_1386+5051del
NR_159803.1:n.2263+1184_2263+1186del
NR_159804.1:n.1648+5049_1648+5051del
NR_159805.1:n.1714+5049_1714+5051del
NR_159806.1:n.1866+1184_1866+1186del
NR_159807.1:n.1622+5049_1622+5051del
NR_159808.1:n.1826+5049_1826+5051del
NM_000328.3:c.1905+1184_1905+1186del	NP_000319.1:n.1905+1184_1905+1186del
NM_001034853.2:c.3089_3091del MANE Select	NP_001030025.1:p.Gly1030del