Canonical Allele Identifier: CA612365543

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21294860_21294862dup , CM000676.2:g.21294860_21294862dup	GRCh38
NC_000014.8:g.21763019_21763021dup , CM000676.1:g.21763019_21763021dup	GRCh37
NC_000014.7:g.20832859_20832861dup	NCBI36
NG_008933.1:g.11884_11886dup

Transcript Alleles

HGVS	Amino-acid Change
NM_020366.4:c.218+51_218+53dup MANE Select	NP_065099.3:n.218+51_218+53dup
ENST00000400017.7:c.218+51_218+53dup MANE Select	ENSP00000382895.2:n.218+51_218+53dup
NM_020366.3:c.218+51_218+53dup	NP_065099.3:n.218+51_218+53dup
ENST00000400017.6:c.218+51_218+53dup	ENSP00000382895.2:n.218+51_218+53dup
ENST00000556336.5:c.218+51_218+53dup	ENSP00000450445.1:n.218+51_218+53dup
ENST00000557771.5:c.218+51_218+53dup	ENSP00000451219.1:n.218+51_218+53dup
XM_011536983.1:c.218+51_218+53dup	XP_011535285.1:n.218+51_218+53dup