Canonical Allele Identifier: CA2800816037

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312050_21312069del , CM000676.2:g.21312050_21312069del	GRCh38
NC_000014.8:g.21780209_21780228del , CM000676.1:g.21780209_21780228del	GRCh37
NC_000014.7:g.20850049_20850068del	NCBI36
NG_008933.1:g.29074_29093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+80_1077+99del MANE Select	ENSP00000382895.2:n.1077+80_1077+99del
ENST00000400017.6:c.1077+80_1077+99del	ENSP00000382895.2:n.1077+80_1077+99del
ENST00000556336.5:c.996+80_996+99del	ENSP00000450445.1:n.996+80_996+99del
ENST00000557771.5:c.996+80_996+99del	ENSP00000451219.1:n.996+80_996+99del
NM_020366.3:c.1077+80_1077+99del	NP_065099.3:n.1077+80_1077+99del
XM_011536983.1:c.1044+80_1044+99del	XP_011535285.1:n.1044+80_1044+99del
NM_020366.4:c.1077+80_1077+99del MANE Select	NP_065099.3:n.1077+80_1077+99del