Canonical Allele Identifier: CA10588989
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266116
ClinVar RCV Id: RCV000256440
dbSNP Id: rs886039911
MyVariant Identifiers: chr14:g.21775989_21776009del (hg19) chr14:g.21307830_21307850del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21307833_21307853del , CM000676.2:g.21307833_21307853del GRCh38
NC_000014.8:g.21775992_21776012del , CM000676.1:g.21775992_21776012del GRCh37
NC_000014.7:g.20845832_20845852del NCBI36
NG_008933.1:g.24857_24877del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.903_906+17del
ENST00000400017.6:c.903_906+17del
ENST00000556336.5:c.822_825+17del
ENST00000557771.5:c.822_825+17del
NM_020366.3:c.903_906+17del
XM_011536983.1:c.870_873+17del
NM_020366.4:c.903_906+17del
Search 100 bp 5'
Search 100 bp 3'