Canonical Allele Identifier: CA515647503

Gene: RPGR

Linked Data

• ClinVar Variation Id: 2043817
• ClinVar RCV Id: RCV002913273
• dbSNP Id: rs1236089041
• gnomAD v2: X-38156514-GCAGA-G
• gnomAD v3: X-38297261-GCAGA-G
• gnomAD v4: X-38297261-GCAGA-G
• MyVariant Identifiers: chrX:g.38156515_38156518del (hg19) ; chrX:g.38297262_38297265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38297266_38297269del , CM000685.2:g.38297266_38297269del	GRCh38
NC_000023.10:g.38156519_38156522del , CM000685.1:g.38156519_38156522del	GRCh37
NC_000023.9:g.38041463_38041466del	NCBI36
NG_009553.1:g.35271_35274del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.618+19_618+22del
ENST00000642170.1:n.1668+19_1668+22del
ENST00000642395.2:c.1414+19_1414+22del	ENSP00000493468.2:n.1414+19_1414+22del
ENST00000642739.1:c.1414+19_1414+22del	ENSP00000493596.1:n.1414+19_1414+22del
ENST00000644238.1:c.1228+19_1228+22del	ENSP00000496728.1:n.1228+19_1228+22del
ENST00000644337.1:c.1228+19_1228+22del	ENSP00000494557.1:n.1228+19_1228+22del
ENST00000645032.1:c.1414+19_1414+22del MANE Select	ENSP00000495537.1:n.1414+19_1414+22del
ENST00000645124.1:c.1414+19_1414+22del	ENSP00000496446.1:n.1414+19_1414+22del
ENST00000646020.1:c.1474+19_1474+22del	ENSP00000494745.1:n.1474+19_1474+22del
ENST00000318842.11:c.1414+19_1414+22del	ENSP00000322219.6:n.1414+19_1414+22del
ENST00000339363.7:c.1414+19_1414+22del	ENSP00000343671.3:n.1414+19_1414+22del
ENST00000378505.6:c.1414+19_1414+22del	ENSP00000367766.2:n.1414+19_1414+22del
ENST00000465127.1:c.172-368855_172-368852del	ENSP00000417050.1:n.172-368855_172-368852...
ENST00000474584.5:c.1414+19_1414+22del	ENSP00000418926.1:n.1414+19_1414+22del
ENST00000482855.5:c.1414+19_1414+22del	ENSP00000419276.1:n.1414+19_1414+22del
NM_000328.2:c.1414+19_1414+22del	NP_000319.1:n.1414+19_1414+22del
NM_001034853.1:c.1414+19_1414+22del	NP_001030025.1:n.1414+19_1414+22del
XM_005272633.1:c.1414+19_1414+22del	XP_005272690.1:n.1414+19_1414+22del
XM_011543940.1:c.1411+19_1411+22del	XP_011542242.1:n.1411+19_1411+22del
XM_005272633.3:c.1414+19_1414+22del	XP_005272690.1:n.1414+19_1414+22del
XM_011543940.3:c.1411+19_1411+22del	XP_011542242.1:n.1411+19_1411+22del
XM_017029712.2:c.1411+19_1411+22del	XP_016885201.1:n.1411+19_1411+22del
NM_001367245.1:c.1411+19_1411+22del	NP_001354174.1:n.1411+19_1411+22del
NM_001367246.1:c.1228+19_1228+22del	NP_001354175.1:n.1228+19_1228+22del
NM_001367247.1:c.1414+19_1414+22del	NP_001354176.1:n.1414+19_1414+22del
NM_001367248.1:c.1444+19_1444+22del	NP_001354177.1:n.1444+19_1444+22del
NM_001367249.1:c.1411+19_1411+22del	NP_001354178.1:n.1411+19_1411+22del
NM_001367250.1:c.1411+19_1411+22del	NP_001354179.1:n.1411+19_1411+22del
NM_001367251.1:c.1228+19_1228+22del	NP_001354180.1:n.1228+19_1228+22del
NR_159803.1:n.1616+19_1616+22del
NR_159804.1:n.1490+19_1490+22del
NR_159805.1:n.1556+19_1556+22del
NR_159806.1:n.1556+19_1556+22del
NR_159807.1:n.1556+19_1556+22del
NR_159808.1:n.1668+19_1668+22del
NM_000328.3:c.1414+19_1414+22del	NP_000319.1:n.1414+19_1414+22del
NM_001034853.2:c.1414+19_1414+22del MANE Select	NP_001030025.1:n.1414+19_1414+22del