Canonical Allele Identifier: CA2800816062

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312105_21312106insAG , CM000676.2:g.21312105_21312106insAG	GRCh38
NC_000014.8:g.21780264_21780265insAG , CM000676.1:g.21780264_21780265insAG	GRCh37
NC_000014.7:g.20850104_20850105insAG	NCBI36
NG_008933.1:g.29129_29130insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+135_1077+136insAG MANE Select	ENSP00000382895.2:n.1077+135_1077+136insAG
ENST00000400017.6:c.1077+135_1077+136insAG	ENSP00000382895.2:n.1077+135_1077+136insAG
ENST00000556336.5:c.996+135_996+136insAG	ENSP00000450445.1:n.996+135_996+136insAG
ENST00000557771.5:c.996+135_996+136insAG	ENSP00000451219.1:n.996+135_996+136insAG
NM_020366.3:c.1077+135_1077+136insAG	NP_065099.3:n.1077+135_1077+136insAG
XM_011536983.1:c.1044+135_1044+136insAG	XP_011535285.1:n.1044+135_1044+136insAG
NM_020366.4:c.1077+135_1077+136insAG MANE Select	NP_065099.3:n.1077+135_1077+136insAG