Canonical Allele Identifier: CA960927359

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1881575292
• gnomAD v3: 14-21312367-CAG-C
• gnomAD v4: 14-21312367-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312368_21312369del , CM000676.2:g.21312368_21312369del	GRCh38
NC_000014.8:g.21780527_21780528del , CM000676.1:g.21780527_21780528del	GRCh37
NC_000014.7:g.20850367_20850368del	NCBI36
NG_008933.1:g.29392_29393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-65_1078-64del MANE Select	ENSP00000382895.2:n.1078-65_1078-64del
ENST00000400017.6:c.1078-65_1078-64del	ENSP00000382895.2:n.1078-65_1078-64del
ENST00000556336.5:c.997-65_997-64del	ENSP00000450445.1:n.997-65_997-64del
ENST00000557771.5:c.997-65_997-64del	ENSP00000451219.1:n.997-65_997-64del
NM_020366.3:c.1078-65_1078-64del	NP_065099.3:n.1078-65_1078-64del
XM_011536983.1:c.1045-65_1045-64del	XP_011535285.1:n.1045-65_1045-64del
NM_020366.4:c.1078-65_1078-64del MANE Select	NP_065099.3:n.1078-65_1078-64del