Canonical Allele Identifier: CA2575475914

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312411_21312412del , CM000676.2:g.21312411_21312412del	GRCh38
NC_000014.8:g.21780570_21780571del , CM000676.1:g.21780570_21780571del	GRCh37
NC_000014.7:g.20850410_20850411del	NCBI36
NG_008933.1:g.29435_29436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-22_1078-21del MANE Select	ENSP00000382895.2:n.1078-22_1078-21del
ENST00000400017.6:c.1078-22_1078-21del	ENSP00000382895.2:n.1078-22_1078-21del
ENST00000556336.5:c.997-22_997-21del	ENSP00000450445.1:n.997-22_997-21del
ENST00000557771.5:c.997-22_997-21del	ENSP00000451219.1:n.997-22_997-21del
NM_020366.3:c.1078-22_1078-21del	NP_065099.3:n.1078-22_1078-21del
XM_011536983.1:c.1045-22_1045-21del	XP_011535285.1:n.1045-22_1045-21del
NM_020366.4:c.1078-22_1078-21del MANE Select	NP_065099.3:n.1078-22_1078-21del