Canonical Allele Identifier: CA2122452669

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312118_21312120delinsATT , CM000676.2:g.21312118_21312120delinsATT	GRCh38
NC_000014.8:g.21780277_21780279delinsATT , CM000676.1:g.21780277_21780279delinsATT	GRCh37
NC_000014.7:g.20850117_20850119delinsATT	NCBI36
NG_008933.1:g.29142_29144delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+148_1077+150delinsATT MANE Select	ENSP00000382895.2:n.1077+148_1077+150delinsATT
ENST00000400017.6:c.1077+148_1077+150delinsATT	ENSP00000382895.2:n.1077+148_1077+150delinsATT
ENST00000556336.5:c.996+148_996+150delinsATT	ENSP00000450445.1:n.996+148_996+150delinsATT
ENST00000557771.5:c.996+148_996+150delinsATT	ENSP00000451219.1:n.996+148_996+150delinsATT
NM_020366.3:c.1077+148_1077+150delinsATT	NP_065099.3:n.1077+148_1077+150delinsATT
XM_011536983.1:c.1044+148_1044+150delinsATT	XP_011535285.1:n.1044+148_1044+150delinsATT
NM_020366.4:c.1077+148_1077+150delinsATT MANE Select	NP_065099.3:n.1077+148_1077+150delinsATT