Canonical Allele Identifier: CA2122460400

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324861_21324862delinsCT , CM000676.2:g.21324861_21324862delinsCT	GRCh38
NC_000014.8:g.21793020_21793021delinsCT , CM000676.1:g.21793020_21793021delinsCT	GRCh37
NC_000014.7:g.20862860_20862861delinsCT	NCBI36
NG_008933.1:g.41885_41886delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2006_2007delinsCT MANE Select	ENSP00000382895.2:p.Ser669=
ENST00000382933.8:c.689-2762_689-2761delinsCT	ENSP00000372391.4:n.689-2762_689-2761delinsCT
ENST00000400017.6:c.2006_2007delinsCT	ENSP00000382895.2:p.Ser669=
ENST00000553500.5:n.328+136_328+137delinsCT
ENST00000553927.1:n.938_939delinsCT
ENST00000554303.1:c.392_393delinsCT	ENSP00000450426.1:p.Ser131=
ENST00000555322.5:c.433_434delinsCT
ENST00000555489.5:c.213-14_213-13delinsCT	ENSP00000451044.1:n.213-14_213-13delinsCT
ENST00000555587.5:c.431_432delinsCT	ENSP00000451262.1:p.Ser144=
ENST00000556336.5:c.1682-2762_1682-2761delinsCT	ENSP00000450445.1:n.1682-2762_1682-2761delinsCT
ENST00000557771.5:c.1892_1893delinsCT	ENSP00000451219.1:p.Ser631=
NM_020366.3:c.2006_2007delinsCT	NP_065099.3:p.Ser669=
XM_005267879.2:c.932_933delinsCT	XP_005267936.1:p.Ser311=
XM_005267880.2:c.899_900delinsCT	XP_005267937.1:p.Ser300=
XM_005267881.2:c.380_381delinsCT	XP_005267938.1:p.Ser127=
XM_011536978.1:c.932_933delinsCT	XP_011535280.1:p.Ser311=
XM_011536979.1:c.797-81_797-80delinsCT	XP_011535281.1:n.797-81_797-80delinsCT
XM_011536980.1:c.796+136_796+137delinsCT	XP_011535282.1:n.796+136_796+137delinsCT
XM_011536981.1:c.932_933delinsCT	XP_011535283.1:p.Ser311=
XM_011536982.1:c.796+136_796+137delinsCT	XP_011535284.1:n.796+136_796+137delinsCT
XM_011536983.1:c.1973_1974delinsCT	XP_011535285.1:p.Ser658=
XM_005267881.3:c.380_381delinsCT	XP_005267938.1:p.Ser127=
XM_017021473.1:c.932_933delinsCT	XP_016876962.1:p.Ser311=
XM_024449663.1:c.932_933delinsCT	XP_024305431.1:p.Ser311=
XM_024449664.1:c.932_933delinsCT	XP_024305432.1:p.Ser311=
XM_024449665.1:c.796+136_796+137delinsCT	XP_024305433.1:n.796+136_796+137delinsCT
XM_024449666.1:c.796+136_796+137delinsCT	XP_024305434.1:n.796+136_796+137delinsCT
NM_001377523.1:c.689-2762_689-2761delinsCT	NP_001364452.1:n.689-2762_689-2761delinsCT
NM_001377948.1:c.932_933delinsCT	NP_001364877.1:p.Ser311=
NM_001377949.1:c.796+136_796+137delinsCT	NP_001364878.1:n.796+136_796+137delinsCT
NM_001377950.1:c.689-2762_689-2761delinsCT	NP_001364879.1:n.689-2762_689-2761delinsCT
NM_001377951.1:c.191-2762_191-2761delinsCT	NP_001364880.1:n.191-2762_191-2761delinsCT
NM_020366.4:c.2006_2007delinsCT MANE Select	NP_065099.3:p.Ser669=