Canonical Allele Identifier: CA227902
Gene: RPGRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99809
ClinVar RCV Id: RCV000086238 RCV000171128 RCV000786015 RCV001047199 RCV001800395
dbSNP Id: rs61751266
gnomAD v2: 14-21780616-GA-G
gnomAD v4: 14-21312457-GA-G
MyVariant Identifiers: chr14:g.21780617del (hg19) chr14:g.21312458del (hg38)
PubMed: PMID:24997176
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312462del , CM000676.2:g.21312462del GRCh38
NC_000014.8:g.21780621del , CM000676.1:g.21780621del GRCh37
NC_000014.7:g.20850461del NCBI36
NG_008933.1:g.29486del

Transcript Alleles

HGVS Amino-acid change
ENST00000400017.7:c.1107del MANE Select ENSP00000382895.2:p.Glu370AsnfsTer5
ENST00000400017.6:c.1107del ENSP00000382895.2:p.Glu370AsnfsTer5
ENST00000556336.5:c.1026del ENSP00000450445.1:p.Glu343AsnfsTer5
ENST00000557771.5:c.1026del ENSP00000451219.1:p.Glu343AsnfsTer5
NM_020366.3:c.1107del NP_065099.3:p.Glu370AsnfsTer5
XM_011536983.1:c.1074del XP_011535285.1:p.Glu359AsnfsTer5
NM_020366.4:c.1107del MANE Select NP_065099.3:p.Glu370AsnfsTer5
Search 100 bp 5'
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