Canonical Allele Identifier: CA665798859
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1174224526
MyVariant Identifiers: chr10:g.47350131del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350132del , CM000672.2:g.47350132del GRCh38
NC_000010.10:g.48389231del , CM000672.1:g.48389231del GRCh37
NC_000010.9:g.48009237del NCBI36
NG_029718.1:g.6762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1648del MANE Select ENSP00000463151.1:p.Glu550ArgfsTer16
ENST00000584701.1:c.1648del ENSP00000463151.1:p.Glu550ArgfsTer16
NM_002900.2:c.1648del NP_002891.1:p.Glu550ArgfsTer16
NM_002900.3:c.1648del MANE Select NP_002891.1:p.Glu550ArgfsTer16