Canonical Allele Identifier: CA2609024854

Gene: RBP3

Linked Data

• gnomAD v4: 10-47350632-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350637del , CM000672.2:g.47350637del	GRCh38
NC_000010.10:g.48388729del , CM000672.1:g.48388729del	GRCh37
NC_000010.9:g.48008735del	NCBI36
NG_029718.1:g.7267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2153del MANE Select	ENSP00000463151.1:p.Pro718LeufsTer?
ENST00000584701.1:c.2153del	ENSP00000463151.1:p.Pro718LeufsTer?
NM_002900.2:c.2153del	NP_002891.1:p.Pro718LeufsTer?
NM_002900.3:c.2153del MANE Select	NP_002891.1:p.Pro718LeufsTer?