Canonical Allele Identifier: CA2122460463

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324873_21324874delinsAG , CM000676.2:g.21324873_21324874delinsAG	GRCh38
NC_000014.8:g.21793032_21793033delinsAG , CM000676.1:g.21793032_21793033delinsAG	GRCh37
NC_000014.7:g.20862872_20862873delinsAG	NCBI36
NG_008933.1:g.41897_41898delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2018_2019delinsAG MANE Select	ENSP00000382895.2:p.Gln673=
ENST00000382933.8:c.689-2750_689-2749delinsAG	ENSP00000372391.4:n.689-2750_689-2749delinsAG
ENST00000400017.6:c.2018_2019delinsAG	ENSP00000382895.2:p.Gln673=
ENST00000553500.5:n.328+148_328+149delinsAG
ENST00000553927.1:n.950_951delinsAG
ENST00000554303.1:c.404_405delinsAG	ENSP00000450426.1:p.Gln135=
ENST00000555322.5:c.445_446delinsAG
ENST00000555489.5:c.213-2_213-1delinsAG	ENSP00000451044.1:n.213-2_213-1delinsAG
ENST00000555587.5:c.443_444delinsAG	ENSP00000451262.1:p.Gln148=
ENST00000556336.5:c.1682-2750_1682-2749delinsAG	ENSP00000450445.1:n.1682-2750_1682-2749delinsAG
ENST00000557771.5:c.1904_1905delinsAG	ENSP00000451219.1:p.Gln635=
NM_020366.3:c.2018_2019delinsAG	NP_065099.3:p.Gln673=
XM_005267879.2:c.944_945delinsAG	XP_005267936.1:p.Gln315=
XM_005267880.2:c.911_912delinsAG	XP_005267937.1:p.Gln304=
XM_005267881.2:c.392_393delinsAG	XP_005267938.1:p.Gln131=
XM_011536978.1:c.944_945delinsAG	XP_011535280.1:p.Gln315=
XM_011536979.1:c.797-69_797-68delinsAG	XP_011535281.1:n.797-69_797-68delinsAG
XM_011536980.1:c.796+148_796+149delinsAG	XP_011535282.1:n.796+148_796+149delinsAG
XM_011536981.1:c.944_945delinsAG	XP_011535283.1:p.Gln315=
XM_011536982.1:c.796+148_796+149delinsAG	XP_011535284.1:n.796+148_796+149delinsAG
XM_011536983.1:c.1985_1986delinsAG	XP_011535285.1:p.Gln662=
XM_005267881.3:c.392_393delinsAG	XP_005267938.1:p.Gln131=
XM_017021473.1:c.944_945delinsAG	XP_016876962.1:p.Gln315=
XM_024449663.1:c.944_945delinsAG	XP_024305431.1:p.Gln315=
XM_024449664.1:c.944_945delinsAG	XP_024305432.1:p.Gln315=
XM_024449665.1:c.796+148_796+149delinsAG	XP_024305433.1:n.796+148_796+149delinsAG
XM_024449666.1:c.796+148_796+149delinsAG	XP_024305434.1:n.796+148_796+149delinsAG
NM_001377523.1:c.689-2750_689-2749delinsAG	NP_001364452.1:n.689-2750_689-2749delinsAG
NM_001377948.1:c.944_945delinsAG	NP_001364877.1:p.Gln315=
NM_001377949.1:c.796+148_796+149delinsAG	NP_001364878.1:n.796+148_796+149delinsAG
NM_001377950.1:c.689-2750_689-2749delinsAG	NP_001364879.1:n.689-2750_689-2749delinsAG
NM_001377951.1:c.191-2750_191-2749delinsAG	NP_001364880.1:n.191-2750_191-2749delinsAG
NM_020366.4:c.2018_2019delinsAG MANE Select	NP_065099.3:p.Gln673=