Canonical Allele Identifier: CA2122452813

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312422_21312426delinsATCAC , CM000676.2:g.21312422_21312426delinsATCAC	GRCh38
NC_000014.8:g.21780581_21780585delinsATCAC , CM000676.1:g.21780581_21780585delinsATCAC	GRCh37
NC_000014.7:g.20850421_20850425delinsATCAC	NCBI36
NG_008933.1:g.29446_29450delinsATCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-11_1078-7delinsATCAC MANE Select	ENSP00000382895.2:n.1078-11_1078-7delinsATCAC
ENST00000400017.6:c.1078-11_1078-7delinsATCAC	ENSP00000382895.2:n.1078-11_1078-7delinsATCAC
ENST00000556336.5:c.997-11_997-7delinsATCAC	ENSP00000450445.1:n.997-11_997-7delinsATCAC
ENST00000557771.5:c.997-11_997-7delinsATCAC	ENSP00000451219.1:n.997-11_997-7delinsATCAC
NM_020366.3:c.1078-11_1078-7delinsATCAC	NP_065099.3:n.1078-11_1078-7delinsATCAC
XM_011536983.1:c.1045-11_1045-7delinsATCAC	XP_011535285.1:n.1045-11_1045-7delinsATCAC
NM_020366.4:c.1078-11_1078-7delinsATCAC MANE Select	NP_065099.3:n.1078-11_1078-7delinsATCAC