Canonical Allele Identifier: CA2800816106

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312605_21312607del , CM000676.2:g.21312605_21312607del	GRCh38
NC_000014.8:g.21780764_21780766del , CM000676.1:g.21780764_21780766del	GRCh37
NC_000014.7:g.20850604_20850606del	NCBI36
NG_008933.1:g.29629_29631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1151+99_1151+101del MANE Select	ENSP00000382895.2:n.1151+99_1151+101del
ENST00000400017.6:c.1151+99_1151+101del	ENSP00000382895.2:n.1151+99_1151+101del
ENST00000556336.5:c.1070+99_1070+101del	ENSP00000450445.1:n.1070+99_1070+101del
ENST00000557771.5:c.1070+99_1070+101del	ENSP00000451219.1:n.1070+99_1070+101del
NM_020366.3:c.1151+99_1151+101del	NP_065099.3:n.1151+99_1151+101del
XM_011536983.1:c.1118+99_1118+101del	XP_011535285.1:n.1118+99_1118+101del
NM_020366.4:c.1151+99_1151+101del MANE Select	NP_065099.3:n.1151+99_1151+101del