Canonical Allele Identifier: CA2624071780

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324797-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324800del , CM000676.2:g.21324800del	GRCh38
NC_000014.8:g.21792959del , CM000676.1:g.21792959del	GRCh37
NC_000014.7:g.20862799del	NCBI36
NG_008933.1:g.41824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1945del MANE Select	ENSP00000382895.2:p.Gln649AsnfsTer?
ENST00000382933.8:c.688+2796del	ENSP00000372391.4:n.688+2796del
ENST00000400017.6:c.1945del	ENSP00000382895.2:p.Gln649AsnfsTer?
ENST00000553500.5:n.328+75del
ENST00000553927.1:n.877del
ENST00000554303.1:c.331del	ENSP00000450426.1:p.Gln111AsnfsTer?
ENST00000555322.5:c.372del
ENST00000555489.5:c.213-75del	ENSP00000451044.1:n.213-75del
ENST00000555587.5:c.370del	ENSP00000451262.1:p.Gln124AsnfsTer?
ENST00000556336.5:c.1681+2796del	ENSP00000450445.1:n.1681+2796del
ENST00000557771.5:c.1831del	ENSP00000451219.1:p.Gln611AsnfsTer?
NM_020366.3:c.1945del	NP_065099.3:p.Gln649AsnfsTer?
XM_005267879.2:c.871del	XP_005267936.1:p.Gln291AsnfsTer?
XM_005267880.2:c.838del	XP_005267937.1:p.Gln280AsnfsTer?
XM_005267881.2:c.319del	XP_005267938.1:p.Gln107AsnfsTer?
XM_011536978.1:c.871del	XP_011535280.1:p.Gln291AsnfsTer?
XM_011536979.1:c.796+75del	XP_011535281.1:n.796+75del
XM_011536980.1:c.796+75del	XP_011535282.1:n.796+75del
XM_011536981.1:c.871del	XP_011535283.1:p.Gln291AsnfsTer?
XM_011536982.1:c.796+75del	XP_011535284.1:n.796+75del
XM_011536983.1:c.1912del	XP_011535285.1:p.Gln638AsnfsTer?
XM_005267881.3:c.319del	XP_005267938.1:p.Gln107AsnfsTer?
XM_017021473.1:c.871del	XP_016876962.1:p.Gln291AsnfsTer?
XM_024449663.1:c.871del	XP_024305431.1:p.Gln291AsnfsTer?
XM_024449664.1:c.871del	XP_024305432.1:p.Gln291AsnfsTer?
XM_024449665.1:c.796+75del	XP_024305433.1:n.796+75del
XM_024449666.1:c.796+75del	XP_024305434.1:n.796+75del
NM_001377523.1:c.688+2796del	NP_001364452.1:n.688+2796del
NM_001377948.1:c.871del	NP_001364877.1:p.Gln291AsnfsTer?
NM_001377949.1:c.796+75del	NP_001364878.1:n.796+75del
NM_001377950.1:c.688+2796del	NP_001364879.1:n.688+2796del
NM_001377951.1:c.190+2796del	NP_001364880.1:n.190+2796del
NM_020366.4:c.1945del MANE Select	NP_065099.3:p.Gln649AsnfsTer?