Canonical Allele Identifier: CA2122452654

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312077_21312080delinsCGAA , CM000676.2:g.21312077_21312080delinsCGAA	GRCh38
NC_000014.8:g.21780236_21780239delinsCGAA , CM000676.1:g.21780236_21780239delinsCGAA	GRCh37
NC_000014.7:g.20850076_20850079delinsCGAA	NCBI36
NG_008933.1:g.29101_29104delinsCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+107_1077+110delinsCGAA MANE Select	ENSP00000382895.2:n.1077+107_1077+110delinsCGAA
ENST00000400017.6:c.1077+107_1077+110delinsCGAA	ENSP00000382895.2:n.1077+107_1077+110delinsCGAA
ENST00000556336.5:c.996+107_996+110delinsCGAA	ENSP00000450445.1:n.996+107_996+110delinsCGAA
ENST00000557771.5:c.996+107_996+110delinsCGAA	ENSP00000451219.1:n.996+107_996+110delinsCGAA
NM_020366.3:c.1077+107_1077+110delinsCGAA	NP_065099.3:n.1077+107_1077+110delinsCGAA
XM_011536983.1:c.1044+107_1044+110delinsCGAA	XP_011535285.1:n.1044+107_1044+110delinsCGAA
NM_020366.4:c.1077+107_1077+110delinsCGAA MANE Select	NP_065099.3:n.1077+107_1077+110delinsCGAA