Canonical Allele Identifier: CA2573145151
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402243
ClinVar RCV Id: RCV001906335
dbSNP Id: rs2132254606
gnomAD v4: 10-47350566-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350570del , CM000672.2:g.47350570del GRCh38
NC_000010.10:g.48388795del , CM000672.1:g.48388795del GRCh37
NC_000010.9:g.48008801del NCBI36
NG_029718.1:g.7200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2086del MANE Select ENSP00000463151.1:p.Asp696ThrfsTer5
ENST00000584701.1:c.2086del ENSP00000463151.1:p.Asp696ThrfsTer5
NM_002900.2:c.2086del NP_002891.1:p.Asp696ThrfsTer5
NM_002900.3:c.2086del MANE Select NP_002891.1:p.Asp696ThrfsTer5
Search 100 bp 5'
Search 100 bp 3'