Canonical Allele Identifier: CA916083101
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 869149
ClinVar RCV Id: RCV001078178
dbSNP Id: rs1836931186
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349892del , CM000672.2:g.47349892del GRCh38
NC_000010.10:g.48389471del , CM000672.1:g.48389471del GRCh37
NC_000010.9:g.48009477del NCBI36
NG_029718.1:g.6522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1408del MANE Select ENSP00000463151.1:p.Asp470ThrfsTer?
ENST00000584701.1:c.1408del ENSP00000463151.1:p.Asp470ThrfsTer?
NM_002900.2:c.1408del NP_002891.1:p.Asp470ThrfsTer?
NM_002900.3:c.1408del MANE Select NP_002891.1:p.Asp470ThrfsTer?
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