Canonical Allele Identifier: CA2624071784

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324861-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324864_21324865del , CM000676.2:g.21324864_21324865del	GRCh38
NC_000014.8:g.21793023_21793024del , CM000676.1:g.21793023_21793024del	GRCh37
NC_000014.7:g.20862863_20862864del	NCBI36
NG_008933.1:g.41888_41889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2009_2010del MANE Select	ENSP00000382895.2:p.Val670GlyfsTer7
ENST00000382933.8:c.689-2759_689-2758del	ENSP00000372391.4:n.689-2759_689-2758del
ENST00000400017.6:c.2009_2010del	ENSP00000382895.2:p.Val670GlyfsTer7
ENST00000553500.5:n.328+139_328+140del
ENST00000553927.1:n.941_942del
ENST00000554303.1:c.395_396del	ENSP00000450426.1:p.Val132GlyfsTer7
ENST00000555322.5:c.436_437del
ENST00000555489.5:c.213-11_213-10del	ENSP00000451044.1:n.213-11_213-10del
ENST00000555587.5:c.434_435del	ENSP00000451262.1:p.Val145GlyfsTer7
ENST00000556336.5:c.1682-2759_1682-2758del	ENSP00000450445.1:n.1682-2759_1682-2758del
ENST00000557771.5:c.1895_1896del	ENSP00000451219.1:p.Val632GlyfsTer7
NM_020366.3:c.2009_2010del	NP_065099.3:p.Val670GlyfsTer7
XM_005267879.2:c.935_936del	XP_005267936.1:p.Val312GlyfsTer7
XM_005267880.2:c.902_903del	XP_005267937.1:p.Val301GlyfsTer7
XM_005267881.2:c.383_384del	XP_005267938.1:p.Val128GlyfsTer7
XM_011536978.1:c.935_936del	XP_011535280.1:p.Val312GlyfsTer7
XM_011536979.1:c.797-78_797-77del	XP_011535281.1:n.797-78_797-77del
XM_011536980.1:c.796+139_796+140del	XP_011535282.1:n.796+139_796+140del
XM_011536981.1:c.935_936del	XP_011535283.1:p.Val312GlyfsTer7
XM_011536982.1:c.796+139_796+140del	XP_011535284.1:n.796+139_796+140del
XM_011536983.1:c.1976_1977del	XP_011535285.1:p.Val659GlyfsTer7
XM_005267881.3:c.383_384del	XP_005267938.1:p.Val128GlyfsTer7
XM_017021473.1:c.935_936del	XP_016876962.1:p.Val312GlyfsTer7
XM_024449663.1:c.935_936del	XP_024305431.1:p.Val312GlyfsTer7
XM_024449664.1:c.935_936del	XP_024305432.1:p.Val312GlyfsTer7
XM_024449665.1:c.796+139_796+140del	XP_024305433.1:n.796+139_796+140del
XM_024449666.1:c.796+139_796+140del	XP_024305434.1:n.796+139_796+140del
NM_001377523.1:c.689-2759_689-2758del	NP_001364452.1:n.689-2759_689-2758del
NM_001377948.1:c.935_936del	NP_001364877.1:p.Val312GlyfsTer7
NM_001377949.1:c.796+139_796+140del	NP_001364878.1:n.796+139_796+140del
NM_001377950.1:c.689-2759_689-2758del	NP_001364879.1:n.689-2759_689-2758del
NM_001377951.1:c.191-2759_191-2758del	NP_001364880.1:n.191-2759_191-2758del
NM_020366.4:c.2009_2010del MANE Select	NP_065099.3:p.Val670GlyfsTer7