Canonical Allele Identifier: CA2122452682

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312146_21312147delinsAT , CM000676.2:g.21312146_21312147delinsAT	GRCh38
NC_000014.8:g.21780305_21780306delinsAT , CM000676.1:g.21780305_21780306delinsAT	GRCh37
NC_000014.7:g.20850145_20850146delinsAT	NCBI36
NG_008933.1:g.29170_29171delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+176_1077+177delinsAT MANE Select	ENSP00000382895.2:n.1077+176_1077+177delinsAT
ENST00000400017.6:c.1077+176_1077+177delinsAT	ENSP00000382895.2:n.1077+176_1077+177delinsAT
ENST00000556336.5:c.996+176_996+177delinsAT	ENSP00000450445.1:n.996+176_996+177delinsAT
ENST00000557771.5:c.996+176_996+177delinsAT	ENSP00000451219.1:n.996+176_996+177delinsAT
NM_020366.3:c.1077+176_1077+177delinsAT	NP_065099.3:n.1077+176_1077+177delinsAT
XM_011536983.1:c.1044+176_1044+177delinsAT	XP_011535285.1:n.1044+176_1044+177delinsAT
NM_020366.4:c.1077+176_1077+177delinsAT MANE Select	NP_065099.3:n.1077+176_1077+177delinsAT