Canonical Allele Identifier: CA2800816101

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312597_21312598insACA , CM000676.2:g.21312597_21312598insACA	GRCh38
NC_000014.8:g.21780756_21780757insACA , CM000676.1:g.21780756_21780757insACA	GRCh37
NC_000014.7:g.20850596_20850597insACA	NCBI36
NG_008933.1:g.29621_29622insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1151+91_1151+92insACA MANE Select	ENSP00000382895.2:n.1151+91_1151+92insACA
ENST00000400017.6:c.1151+91_1151+92insACA	ENSP00000382895.2:n.1151+91_1151+92insACA
ENST00000556336.5:c.1070+91_1070+92insACA	ENSP00000450445.1:n.1070+91_1070+92insACA
ENST00000557771.5:c.1070+91_1070+92insACA	ENSP00000451219.1:n.1070+91_1070+92insACA
NM_020366.3:c.1151+91_1151+92insACA	NP_065099.3:n.1151+91_1151+92insACA
XM_011536983.1:c.1118+91_1118+92insACA	XP_011535285.1:n.1118+91_1118+92insACA
NM_020366.4:c.1151+91_1151+92insACA MANE Select	NP_065099.3:n.1151+91_1151+92insACA