Canonical Allele Identifier: CA2800816066

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312155_21312156insAC , CM000676.2:g.21312155_21312156insAC	GRCh38
NC_000014.8:g.21780314_21780315insAC , CM000676.1:g.21780314_21780315insAC	GRCh37
NC_000014.7:g.20850154_20850155insAC	NCBI36
NG_008933.1:g.29179_29180insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+185_1077+186insAC MANE Select	ENSP00000382895.2:n.1077+185_1077+186insAC
ENST00000400017.6:c.1077+185_1077+186insAC	ENSP00000382895.2:n.1077+185_1077+186insAC
ENST00000556336.5:c.996+185_996+186insAC	ENSP00000450445.1:n.996+185_996+186insAC
ENST00000557771.5:c.996+185_996+186insAC	ENSP00000451219.1:n.996+185_996+186insAC
NM_020366.3:c.1077+185_1077+186insAC	NP_065099.3:n.1077+185_1077+186insAC
XM_011536983.1:c.1044+185_1044+186insAC	XP_011535285.1:n.1044+185_1044+186insAC
NM_020366.4:c.1077+185_1077+186insAC MANE Select	NP_065099.3:n.1077+185_1077+186insAC