Canonical Allele Identifier: CA2800816065

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312153_21312154insACA , CM000676.2:g.21312153_21312154insACA	GRCh38
NC_000014.8:g.21780312_21780313insACA , CM000676.1:g.21780312_21780313insACA	GRCh37
NC_000014.7:g.20850152_20850153insACA	NCBI36
NG_008933.1:g.29177_29178insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+183_1077+184insACA MANE Select	ENSP00000382895.2:n.1077+183_1077+184insACA
ENST00000400017.6:c.1077+183_1077+184insACA	ENSP00000382895.2:n.1077+183_1077+184insACA
ENST00000556336.5:c.996+183_996+184insACA	ENSP00000450445.1:n.996+183_996+184insACA
ENST00000557771.5:c.996+183_996+184insACA	ENSP00000451219.1:n.996+183_996+184insACA
NM_020366.3:c.1077+183_1077+184insACA	NP_065099.3:n.1077+183_1077+184insACA
XM_011536983.1:c.1044+183_1044+184insACA	XP_011535285.1:n.1044+183_1044+184insACA
NM_020366.4:c.1077+183_1077+184insACA MANE Select	NP_065099.3:n.1077+183_1077+184insACA