Canonical Allele Identifier: CA10385194

Gene: RPGR

Linked Data

• dbSNP Id: rs755991327
• ExAC: X:38145134 C / CCTTT
• MyVariant Identifiers: chrX:g.38145134_38145135insCTTT (hg19) ; chrX:g.38285881_38285882insCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38285881_38285882insCTTT , CM000685.2:g.38285881_38285882insCTTT	GRCh38
NC_000023.10:g.38145134_38145135insCTTT , CM000685.1:g.38145134_38145135insCTTT	GRCh37
NC_000023.9:g.38030078_38030079insCTTT	NCBI36
NG_009553.1:g.46654_46655insAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1983_953+1984insAAAG
ENST00000642170.1:n.1826+5077_1826+5078insAAAG
ENST00000642395.2:c.1905+1212_1905+1213insAAAG	ENSP00000493468.2:n.1905+1212_1905+1213insAAAG
ENST00000642739.1:c.1572+5077_1572+5078insAAAG	ENSP00000493596.1:n.1572+5077_1572+5078insAAAG
ENST00000644238.1:c.1386+5077_1386+5078insAAAG	ENSP00000496728.1:n.1386+5077_1386+5078insAAAG
ENST00000644337.1:c.1719+1212_1719+1213insAAAG	ENSP00000494557.1:n.1719+1212_1719+1213insAAAG
ENST00000645032.1:c.3117_3118insAAAG MANE Select	ENSP00000495537.1:p.Glu1040LysfsTer?
ENST00000645124.1:c.*101+1212_*101+1213insAAAG	ENSP00000496446.1:n.*101+1212_*101+1213insAAAG
ENST00000646020.1:c.*594+1212_*594+1213insAAAG	ENSP00000494745.1:n.*594+1212_*594+1213insAAAG
ENST00000318842.11:c.1905+1212_1905+1213insAAAG	ENSP00000322219.6:n.1905+1212_1905+1213insAAAG
ENST00000339363.7:c.2520+1212_2520+1213insAAAG	ENSP00000343671.3:n.2520+1212_2520+1213insAAAG
ENST00000378505.6:c.3117_3118insAAAG	ENSP00000367766.2:p.Glu1040LysfsTer?
ENST00000465127.1:c.172-380240_172-380239insCTTT	ENSP00000417050.1:n.172-380240_172-380239insCTTT
ENST00000474584.5:c.*37+5077_*37+5078insAAAG	ENSP00000418926.1:n.*37+5077_*37+5078insAAAG
ENST00000482855.5:c.1905+1212_1905+1213insAAAG	ENSP00000419276.1:n.1905+1212_1905+1213insAAAG
ENST00000494707.5:c.139+5077_139+5078insAAAG
NM_000328.2:c.1905+1212_1905+1213insAAAG	NP_000319.1:n.1905+1212_1905+1213insAAAG
NM_001034853.1:c.3117_3118insAAAG	NP_001030025.1:p.Glu1040LysfsTer?
XM_005272633.1:c.1572+5077_1572+5078insAAAG	XP_005272690.1:n.1572+5077_1572+5078insAAAG
XM_011543940.1:c.1902+1212_1902+1213insAAAG	XP_011542242.1:n.1902+1212_1902+1213insAAAG
XM_005272633.3:c.1572+5077_1572+5078insAAAG	XP_005272690.1:n.1572+5077_1572+5078insAAAG
XM_011543940.3:c.1902+1212_1902+1213insAAAG	XP_011542242.1:n.1902+1212_1902+1213insAAAG
XM_017029712.2:c.1569+5077_1569+5078insAAAG	XP_016885201.1:n.1569+5077_1569+5078insAAAG
NM_001367245.1:c.1902+1212_1902+1213insAAAG	NP_001354174.1:n.1902+1212_1902+1213insAAAG
NM_001367246.1:c.1719+1212_1719+1213insAAAG	NP_001354175.1:n.1719+1212_1719+1213insAAAG
NM_001367247.1:c.1572+5077_1572+5078insAAAG	NP_001354176.1:n.1572+5077_1572+5078insAAAG
NM_001367248.1:c.1602+5077_1602+5078insAAAG	NP_001354177.1:n.1602+5077_1602+5078insAAAG
NM_001367249.1:c.1569+5077_1569+5078insAAAG	NP_001354178.1:n.1569+5077_1569+5078insAAAG
NM_001367250.1:c.1569+5077_1569+5078insAAAG	NP_001354179.1:n.1569+5077_1569+5078insAAAG
NM_001367251.1:c.1386+5077_1386+5078insAAAG	NP_001354180.1:n.1386+5077_1386+5078insAAAG
NR_159803.1:n.2263+1212_2263+1213insAAAG
NR_159804.1:n.1648+5077_1648+5078insAAAG
NR_159805.1:n.1714+5077_1714+5078insAAAG
NR_159806.1:n.1866+1212_1866+1213insAAAG
NR_159807.1:n.1622+5077_1622+5078insAAAG
NR_159808.1:n.1826+5077_1826+5078insAAAG
NM_000328.3:c.1905+1212_1905+1213insAAAG	NP_000319.1:n.1905+1212_1905+1213insAAAG
NM_001034853.2:c.3117_3118insAAAG MANE Select	NP_001030025.1:p.Glu1040LysfsTer?