Canonical Allele Identifier: CA10581690

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 236504
• ClinVar RCV Id: RCV000225615
• dbSNP Id: rs878853390
• MyVariant Identifiers: chr14:g.21793021del (hg19) ; chr14:g.21324862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324862del , CM000676.2:g.21324862del	GRCh38
NC_000014.8:g.21793021del , CM000676.1:g.21793021del	GRCh37
NC_000014.7:g.20862861del	NCBI36
NG_008933.1:g.41886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2007del MANE Select	ENSP00000382895.2:p.Val670TrpfsTer14
ENST00000382933.8:c.689-2761del	ENSP00000372391.4:n.689-2761del
ENST00000400017.6:c.2007del	ENSP00000382895.2:p.Val670TrpfsTer14
ENST00000553500.5:n.328+137del
ENST00000553927.1:n.939del
ENST00000554303.1:c.393del	ENSP00000450426.1:p.Val132TrpfsTer?
ENST00000555322.5:c.434del
ENST00000555489.5:c.213-13del	ENSP00000451044.1:n.213-13del
ENST00000555587.5:c.432del	ENSP00000451262.1:p.Val145TrpfsTer14
ENST00000556336.5:c.1682-2761del	ENSP00000450445.1:n.1682-2761del
ENST00000557771.5:c.1893del	ENSP00000451219.1:p.Val632TrpfsTer14
NM_020366.3:c.2007del	NP_065099.3:p.Val670TrpfsTer14
XM_005267879.2:c.933del	XP_005267936.1:p.Val312TrpfsTer14
XM_005267880.2:c.900del	XP_005267937.1:p.Val301TrpfsTer14
XM_005267881.2:c.381del	XP_005267938.1:p.Val128TrpfsTer14
XM_011536978.1:c.933del	XP_011535280.1:p.Val312TrpfsTer14
XM_011536979.1:c.797-80del	XP_011535281.1:n.797-80del
XM_011536980.1:c.796+137del	XP_011535282.1:n.796+137del
XM_011536981.1:c.933del	XP_011535283.1:p.Val312TrpfsTer14
XM_011536982.1:c.796+137del	XP_011535284.1:n.796+137del
XM_011536983.1:c.1974del	XP_011535285.1:p.Val659TrpfsTer14
XM_005267881.3:c.381del	XP_005267938.1:p.Val128TrpfsTer14
XM_017021473.1:c.933del	XP_016876962.1:p.Val312TrpfsTer14
XM_024449663.1:c.933del	XP_024305431.1:p.Val312TrpfsTer14
XM_024449664.1:c.933del	XP_024305432.1:p.Val312TrpfsTer14
XM_024449665.1:c.796+137del	XP_024305433.1:n.796+137del
XM_024449666.1:c.796+137del	XP_024305434.1:n.796+137del
NM_001377523.1:c.689-2761del	NP_001364452.1:n.689-2761del
NM_001377948.1:c.933del	NP_001364877.1:p.Val312TrpfsTer14
NM_001377949.1:c.796+137del	NP_001364878.1:n.796+137del
NM_001377950.1:c.689-2761del	NP_001364879.1:n.689-2761del
NM_001377951.1:c.191-2761del	NP_001364880.1:n.191-2761del
NM_020366.4:c.2007del MANE Select	NP_065099.3:p.Val670TrpfsTer14