Canonical Allele Identifier: CA2609024695

Gene: RBP3

Linked Data

• gnomAD v4: 10-47349987-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47349989del , CM000672.2:g.47349989del	GRCh38
NC_000010.10:g.48389374del , CM000672.1:g.48389374del	GRCh37
NC_000010.9:g.48009380del	NCBI36
NG_029718.1:g.6619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1505del MANE Select	ENSP00000463151.1:p.Gly502AlafsTer?
ENST00000584701.1:c.1505del	ENSP00000463151.1:p.Gly502AlafsTer?
NM_002900.2:c.1505del	NP_002891.1:p.Gly502AlafsTer?
NM_002900.3:c.1505del MANE Select	NP_002891.1:p.Gly502AlafsTer?