Canonical Allele Identifier: CA704073925

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1464932853
• MyVariant Identifiers: chr14:g.21780237_21780239del (hg19) ; chr14:g.21312078_21312080del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312079_21312081del , CM000676.2:g.21312079_21312081del	GRCh38
NC_000014.8:g.21780238_21780240del , CM000676.1:g.21780238_21780240del	GRCh37
NC_000014.7:g.20850078_20850080del	NCBI36
NG_008933.1:g.29103_29105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+109_1077+111del MANE Select	ENSP00000382895.2:n.1077+109_1077+111del
ENST00000400017.6:c.1077+109_1077+111del	ENSP00000382895.2:n.1077+109_1077+111del
ENST00000556336.5:c.996+109_996+111del	ENSP00000450445.1:n.996+109_996+111del
ENST00000557771.5:c.996+109_996+111del	ENSP00000451219.1:n.996+109_996+111del
NM_020366.3:c.1077+109_1077+111del	NP_065099.3:n.1077+109_1077+111del
XM_011536983.1:c.1044+109_1044+111del	XP_011535285.1:n.1044+109_1044+111del
NM_020366.4:c.1077+109_1077+111del MANE Select	NP_065099.3:n.1077+109_1077+111del