Canonical Allele Identifier: CA2800816047

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312060_21312061insACG , CM000676.2:g.21312060_21312061insACG	GRCh38
NC_000014.8:g.21780219_21780220insACG , CM000676.1:g.21780219_21780220insACG	GRCh37
NC_000014.7:g.20850059_20850060insACG	NCBI36
NG_008933.1:g.29084_29085insACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+90_1077+91insACG MANE Select	ENSP00000382895.2:n.1077+90_1077+91insACG
ENST00000400017.6:c.1077+90_1077+91insACG	ENSP00000382895.2:n.1077+90_1077+91insACG
ENST00000556336.5:c.996+90_996+91insACG	ENSP00000450445.1:n.996+90_996+91insACG
ENST00000557771.5:c.996+90_996+91insACG	ENSP00000451219.1:n.996+90_996+91insACG
NM_020366.3:c.1077+90_1077+91insACG	NP_065099.3:n.1077+90_1077+91insACG
XM_011536983.1:c.1044+90_1044+91insACG	XP_011535285.1:n.1044+90_1044+91insACG
NM_020366.4:c.1077+90_1077+91insACG MANE Select	NP_065099.3:n.1077+90_1077+91insACG