Canonical Allele Identifier: CA2573149731

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 1369938
• ClinVar RCV Id: RCV001876898
• dbSNP Id: rs2139228423

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324879del , CM000676.2:g.21324879del	GRCh38
NC_000014.8:g.21793038del , CM000676.1:g.21793038del	GRCh37
NC_000014.7:g.20862878del	NCBI36
NG_008933.1:g.41903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2024del MANE Select	ENSP00000382895.2:p.Leu675ProfsTer9
ENST00000382933.8:c.689-2744del	ENSP00000372391.4:n.689-2744del
ENST00000400017.6:c.2024del	ENSP00000382895.2:p.Leu675ProfsTer9
ENST00000553500.5:n.328+154del
ENST00000553927.1:n.956del
ENST00000554303.1:c.410del	ENSP00000450426.1:p.Leu137ProfsTer?
ENST00000555322.5:c.451del
ENST00000555489.5:c.217del	ENSP00000451044.1:n.217del
ENST00000555587.5:c.449del	ENSP00000451262.1:p.Leu150ProfsTer9
ENST00000556336.5:c.1682-2744del	ENSP00000450445.1:n.1682-2744del
ENST00000557771.5:c.1910del	ENSP00000451219.1:p.Leu637ProfsTer9
NM_020366.3:c.2024del	NP_065099.3:p.Leu675ProfsTer9
XM_005267879.2:c.950del	XP_005267936.1:p.Leu317ProfsTer9
XM_005267880.2:c.917del	XP_005267937.1:p.Leu306ProfsTer9
XM_005267881.2:c.398del	XP_005267938.1:p.Leu133ProfsTer9
XM_011536978.1:c.950del	XP_011535280.1:p.Leu317ProfsTer9
XM_011536979.1:c.797-63del	XP_011535281.1:n.797-63del
XM_011536980.1:c.796+154del	XP_011535282.1:n.796+154del
XM_011536981.1:c.950del	XP_011535283.1:p.Leu317ProfsTer9
XM_011536982.1:c.796+154del	XP_011535284.1:n.796+154del
XM_011536983.1:c.1991del	XP_011535285.1:p.Leu664ProfsTer9
XM_005267881.3:c.398del	XP_005267938.1:p.Leu133ProfsTer9
XM_017021473.1:c.950del	XP_016876962.1:p.Leu317ProfsTer9
XM_024449663.1:c.950del	XP_024305431.1:p.Leu317ProfsTer9
XM_024449664.1:c.950del	XP_024305432.1:p.Leu317ProfsTer9
XM_024449665.1:c.796+154del	XP_024305433.1:n.796+154del
XM_024449666.1:c.796+154del	XP_024305434.1:n.796+154del
NM_001377523.1:c.689-2744del	NP_001364452.1:n.689-2744del
NM_001377948.1:c.950del	NP_001364877.1:p.Leu317ProfsTer9
NM_001377949.1:c.796+154del	NP_001364878.1:n.796+154del
NM_001377950.1:c.689-2744del	NP_001364879.1:n.689-2744del
NM_001377951.1:c.191-2744del	NP_001364880.1:n.191-2744del
NM_020366.4:c.2024del MANE Select	NP_065099.3:p.Leu675ProfsTer9