Canonical Allele Identifier: CA2800816115

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312623_21312624insACA , CM000676.2:g.21312623_21312624insACA	GRCh38
NC_000014.8:g.21780782_21780783insACA , CM000676.1:g.21780782_21780783insACA	GRCh37
NC_000014.7:g.20850622_20850623insACA	NCBI36
NG_008933.1:g.29647_29648insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1151+117_1151+118insACA MANE Select	ENSP00000382895.2:n.1151+117_1151+118insACA
ENST00000400017.6:c.1151+117_1151+118insACA	ENSP00000382895.2:n.1151+117_1151+118insACA
ENST00000556336.5:c.1070+117_1070+118insACA	ENSP00000450445.1:n.1070+117_1070+118insACA
ENST00000557771.5:c.1070+117_1070+118insACA	ENSP00000451219.1:n.1070+117_1070+118insACA
NM_020366.3:c.1151+117_1151+118insACA	NP_065099.3:n.1151+117_1151+118insACA
XM_011536983.1:c.1118+117_1118+118insACA	XP_011535285.1:n.1118+117_1118+118insACA
NM_020366.4:c.1151+117_1151+118insACA MANE Select	NP_065099.3:n.1151+117_1151+118insACA