Canonical Allele Identifier: CA2122452779

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312367_21312368delinsCA , CM000676.2:g.21312367_21312368delinsCA	GRCh38
NC_000014.8:g.21780526_21780527delinsCA , CM000676.1:g.21780526_21780527delinsCA	GRCh37
NC_000014.7:g.20850366_20850367delinsCA	NCBI36
NG_008933.1:g.29391_29392delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1078-66_1078-65delinsCA MANE Select	ENSP00000382895.2:n.1078-66_1078-65delinsCA
ENST00000400017.6:c.1078-66_1078-65delinsCA	ENSP00000382895.2:n.1078-66_1078-65delinsCA
ENST00000556336.5:c.997-66_997-65delinsCA	ENSP00000450445.1:n.997-66_997-65delinsCA
ENST00000557771.5:c.997-66_997-65delinsCA	ENSP00000451219.1:n.997-66_997-65delinsCA
NM_020366.3:c.1078-66_1078-65delinsCA	NP_065099.3:n.1078-66_1078-65delinsCA
XM_011536983.1:c.1045-66_1045-65delinsCA	XP_011535285.1:n.1045-66_1045-65delinsCA
NM_020366.4:c.1078-66_1078-65delinsCA MANE Select	NP_065099.3:n.1078-66_1078-65delinsCA