Canonical Allele Identifier: CA2580081520

Gene: RBP3

Linked Data

• ClinVar Variation Id: 1804033
• ClinVar RCV Id: RCV002468771

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47349956del , CM000672.2:g.47349956del	GRCh38
NC_000010.10:g.48389406del , CM000672.1:g.48389406del	GRCh37
NC_000010.9:g.48009412del	NCBI36
NG_029718.1:g.6586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1472del MANE Select	ENSP00000463151.1:p.Leu491ArgfsTer?
ENST00000584701.1:c.1472del	ENSP00000463151.1:p.Leu491ArgfsTer?
NM_002900.2:c.1472del	NP_002891.1:p.Leu491ArgfsTer?
NM_002900.3:c.1472del MANE Select	NP_002891.1:p.Leu491ArgfsTer?