Canonical Allele Identifier: CA2800816052

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312070_21312071insGT , CM000676.2:g.21312070_21312071insGT	GRCh38
NC_000014.8:g.21780229_21780230insGT , CM000676.1:g.21780229_21780230insGT	GRCh37
NC_000014.7:g.20850069_20850070insGT	NCBI36
NG_008933.1:g.29094_29095insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+100_1077+101insGT MANE Select	ENSP00000382895.2:n.1077+100_1077+101insGT
ENST00000400017.6:c.1077+100_1077+101insGT	ENSP00000382895.2:n.1077+100_1077+101insGT
ENST00000556336.5:c.996+100_996+101insGT	ENSP00000450445.1:n.996+100_996+101insGT
ENST00000557771.5:c.996+100_996+101insGT	ENSP00000451219.1:n.996+100_996+101insGT
NM_020366.3:c.1077+100_1077+101insGT	NP_065099.3:n.1077+100_1077+101insGT
XM_011536983.1:c.1044+100_1044+101insGT	XP_011535285.1:n.1044+100_1044+101insGT
NM_020366.4:c.1077+100_1077+101insGT MANE Select	NP_065099.3:n.1077+100_1077+101insGT