Canonical Allele Identifier: CA2424848846

Gene: RPGR

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38299100_38299101delinsAG , CM000685.2:g.38299100_38299101delinsAG	GRCh38
NC_000023.10:g.38158353_38158354delinsAG , CM000685.1:g.38158353_38158354delinsAG	GRCh37
NC_000023.9:g.38043297_38043298delinsAG	NCBI36
NG_009553.1:g.33435_33436delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494707.6:c.304_305delinsCT
ENST00000642170.1:n.1354_1355delinsCT
ENST00000642395.2:c.1100_1101delinsCT	ENSP00000493468.2:p.Pro367=
ENST00000642558.1:c.1007_1008delinsCT	ENSP00000496427.1:p.Pro336=
ENST00000642739.1:c.1100_1101delinsCT	ENSP00000493596.1:p.Pro367=
ENST00000644238.1:c.1060-1649_1060-1648delinsCT	ENSP00000496728.1:n.1060-1649_1060-1648delinsCT
ENST00000644337.1:c.1060-1649_1060-1648delinsCT	ENSP00000494557.1:n.1060-1649_1060-1648delinsCT
ENST00000645032.1:c.1100_1101delinsCT MANE Select	ENSP00000495537.1:p.Pro367=
ENST00000645124.1:c.1100_1101delinsCT	ENSP00000496446.1:p.Pro367=
ENST00000646020.1:c.1160_1161delinsCT	ENSP00000494745.1:p.Pro387=
ENST00000318842.11:c.1100_1101delinsCT	ENSP00000322219.6:p.Pro367=
ENST00000339363.7:c.1100_1101delinsCT	ENSP00000343671.3:p.Pro367=
ENST00000378505.6:c.1100_1101delinsCT	ENSP00000367766.2:p.Pro367=
ENST00000464437.1:c.166_167delinsCT
ENST00000465127.1:c.172-367021_172-367020delinsAG	ENSP00000417050.1:n.172-367021_172-367020delinsAG
ENST00000474584.5:c.1100_1101delinsCT	ENSP00000418926.1:p.Pro367=
ENST00000482855.5:c.1100_1101delinsCT	ENSP00000419276.1:p.Pro367=
ENST00000494841.1:n.363_364delinsCT
NM_000328.2:c.1100_1101delinsCT	NP_000319.1:p.Pro367=
NM_001034853.1:c.1100_1101delinsCT	NP_001030025.1:p.Pro367=
XM_005272633.1:c.1100_1101delinsCT	XP_005272690.1:p.Pro367=
XM_011543940.1:c.1097_1098delinsCT	XP_011542242.1:p.Pro366=
XM_005272633.3:c.1100_1101delinsCT	XP_005272690.1:p.Pro367=
XM_011543940.3:c.1097_1098delinsCT	XP_011542242.1:p.Pro366=
XM_017029712.2:c.1097_1098delinsCT	XP_016885201.1:p.Pro366=
NM_001367245.1:c.1097_1098delinsCT	NP_001354174.1:p.Pro366=
NM_001367246.1:c.1060-1649_1060-1648delinsCT	NP_001354175.1:n.1060-1649_1060-1648delinsCT
NM_001367247.1:c.1100_1101delinsCT	NP_001354176.1:p.Pro367=
NM_001367248.1:c.1130_1131delinsCT	NP_001354177.1:p.Pro377=
NM_001367249.1:c.1097_1098delinsCT	NP_001354178.1:p.Pro366=
NM_001367250.1:c.1097_1098delinsCT	NP_001354179.1:p.Pro366=
NM_001367251.1:c.1060-1649_1060-1648delinsCT	NP_001354180.1:n.1060-1649_1060-1648delinsCT
NR_159803.1:n.1302_1303delinsCT
NR_159804.1:n.1151_1152delinsCT
NR_159805.1:n.1242_1243delinsCT
NR_159806.1:n.1242_1243delinsCT
NR_159807.1:n.1242_1243delinsCT
NR_159808.1:n.1354_1355delinsCT
NM_000328.3:c.1100_1101delinsCT	NP_000319.1:p.Pro367=
NM_001034853.2:c.1100_1101delinsCT MANE Select	NP_001030025.1:p.Pro367=