Canonical Allele Identifier: CA2693439025

Gene: RPGR

Linked Data

• gnomAD v4: X-38286182-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286182_38286183insTT , CM000685.2:g.38286182_38286183insTT	GRCh38
NC_000023.10:g.38145435_38145436insTT , CM000685.1:g.38145435_38145436insTT	GRCh37
NC_000023.9:g.38030379_38030380insTT	NCBI36
NG_009553.1:g.46353_46354insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.953+1682_953+1683insAA
ENST00000642170.1:n.1826+4776_1826+4777insAA
ENST00000642395.2:c.1905+911_1905+912insAA	ENSP00000493468.2:n.1905+911_1905+912insAA
ENST00000642739.1:c.1572+4776_1572+4777insAA	ENSP00000493596.1:n.1572+4776_1572+4777insAA
ENST00000644238.1:c.1386+4776_1386+4777insAA	ENSP00000496728.1:n.1386+4776_1386+4777insAA
ENST00000644337.1:c.1719+911_1719+912insAA	ENSP00000494557.1:n.1719+911_1719+912insAA
ENST00000645032.1:c.2816_2817insAA MANE Select	ENSP00000495537.1:p.Glu940ArgfsTer?
ENST00000645124.1:c.*101+911_*101+912insAA	ENSP00000496446.1:n.*101+911_*101+912insAA
ENST00000646020.1:c.*594+911_*594+912insAA	ENSP00000494745.1:n.*594+911_*594+912insAA
ENST00000318842.11:c.1905+911_1905+912insAA	ENSP00000322219.6:n.1905+911_1905+912insAA
ENST00000339363.7:c.2520+911_2520+912insAA	ENSP00000343671.3:n.2520+911_2520+912insAA
ENST00000378505.6:c.2816_2817insAA	ENSP00000367766.2:p.Glu940ArgfsTer?
ENST00000465127.1:c.172-379939_172-379938insTT	ENSP00000417050.1:n.172-379939_172-379938insTT
ENST00000474584.5:c.*37+4776_*37+4777insAA	ENSP00000418926.1:n.*37+4776_*37+4777insAA
ENST00000482855.5:c.1905+911_1905+912insAA	ENSP00000419276.1:n.1905+911_1905+912insAA
ENST00000494707.5:c.139+4776_139+4777insAA
NM_000328.2:c.1905+911_1905+912insAA	NP_000319.1:n.1905+911_1905+912insAA
NM_001034853.1:c.2816_2817insAA	NP_001030025.1:p.Glu940ArgfsTer?
XM_005272633.1:c.1572+4776_1572+4777insAA	XP_005272690.1:n.1572+4776_1572+4777insAA
XM_011543940.1:c.1902+911_1902+912insAA	XP_011542242.1:n.1902+911_1902+912insAA
XM_005272633.3:c.1572+4776_1572+4777insAA	XP_005272690.1:n.1572+4776_1572+4777insAA
XM_011543940.3:c.1902+911_1902+912insAA	XP_011542242.1:n.1902+911_1902+912insAA
XM_017029712.2:c.1569+4776_1569+4777insAA	XP_016885201.1:n.1569+4776_1569+4777insAA
NM_001367245.1:c.1902+911_1902+912insAA	NP_001354174.1:n.1902+911_1902+912insAA
NM_001367246.1:c.1719+911_1719+912insAA	NP_001354175.1:n.1719+911_1719+912insAA
NM_001367247.1:c.1572+4776_1572+4777insAA	NP_001354176.1:n.1572+4776_1572+4777insAA
NM_001367248.1:c.1602+4776_1602+4777insAA	NP_001354177.1:n.1602+4776_1602+4777insAA
NM_001367249.1:c.1569+4776_1569+4777insAA	NP_001354178.1:n.1569+4776_1569+4777insAA
NM_001367250.1:c.1569+4776_1569+4777insAA	NP_001354179.1:n.1569+4776_1569+4777insAA
NM_001367251.1:c.1386+4776_1386+4777insAA	NP_001354180.1:n.1386+4776_1386+4777insAA
NR_159803.1:n.2263+911_2263+912insAA
NR_159804.1:n.1648+4776_1648+4777insAA
NR_159805.1:n.1714+4776_1714+4777insAA
NR_159806.1:n.1866+911_1866+912insAA
NR_159807.1:n.1622+4776_1622+4777insAA
NR_159808.1:n.1826+4776_1826+4777insAA
NM_000328.3:c.1905+911_1905+912insAA	NP_000319.1:n.1905+911_1905+912insAA
NM_001034853.2:c.2816_2817insAA MANE Select	NP_001030025.1:p.Glu940ArgfsTer?