Canonical Allele Identifier: CA960927388

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1881577418
• gnomAD v3: 14-21312411-C-CAAATGTTCTCATTTGAGTAATAGCAAAATAACT
• gnomAD v4: 14-21312411-C-CAAATGTTCTCATTTGAGTAATAGCAAAATAACT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312413_21312414insATGTTCTCATTTGAGTAATAGCAAAATAACTAA , CM000676.2:g.21312413_21312414insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	GRCh38
NC_000014.8:g.21780572_21780573insATGTTCTCATTTGAGTAATAGCAAAATAACTAA , CM000676.1:g.21780572_21780573insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	GRCh37
NC_000014.7:g.20850412_20850413insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	NCBI36
NG_008933.1:g.29437_29438insATGTTCTCATTTGAGTAATAGCAAAATAACTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA MANE Select	ENSP00000382895.2:n.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCA...
ENST00000400017.6:c.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	ENSP00000382895.2:n.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCA...
ENST00000556336.5:c.997-20_997-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	ENSP00000450445.1:n.997-20_997-19insATGTTCTCATTTGAGTAATAGCAAA...
ENST00000557771.5:c.997-20_997-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	ENSP00000451219.1:n.997-20_997-19insATGTTCTCATTTGAGTAATAGCAAA...
NM_020366.3:c.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	NP_065099.3:n.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAA...
XM_011536983.1:c.1045-20_1045-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA	XP_011535285.1:n.1045-20_1045-19insATGTTCTCATTTGAGTAATAGCAAAA...
NM_020366.4:c.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA MANE Select	NP_065099.3:n.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAA...