Canonical Allele Identifier: CA2800816059

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312084_21312085insA , CM000676.2:g.21312084_21312085insA	GRCh38
NC_000014.8:g.21780243_21780244insA , CM000676.1:g.21780243_21780244insA	GRCh37
NC_000014.7:g.20850083_20850084insA	NCBI36
NG_008933.1:g.29108_29109insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+114_1077+115insA MANE Select	ENSP00000382895.2:n.1077+114_1077+115insA
ENST00000400017.6:c.1077+114_1077+115insA	ENSP00000382895.2:n.1077+114_1077+115insA
ENST00000556336.5:c.996+114_996+115insA	ENSP00000450445.1:n.996+114_996+115insA
ENST00000557771.5:c.996+114_996+115insA	ENSP00000451219.1:n.996+114_996+115insA
NM_020366.3:c.1077+114_1077+115insA	NP_065099.3:n.1077+114_1077+115insA
XM_011536983.1:c.1044+114_1044+115insA	XP_011535285.1:n.1044+114_1044+115insA
NM_020366.4:c.1077+114_1077+115insA MANE Select	NP_065099.3:n.1077+114_1077+115insA