Canonical Allele Identifier: CA2609024844
Gene: RBP3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350093_47350095del , CM000672.2:g.47350093_47350095del GRCh38
NC_000010.10:g.48389268_48389270del , CM000672.1:g.48389268_48389270del GRCh37
NC_000010.9:g.48009274_48009276del NCBI36
NG_029718.1:g.6723_6725del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1609_1611del MANE Select ENSP00000463151.1:p.Val537del
ENST00000584701.1:c.1609_1611del ENSP00000463151.1:p.Val537del
NM_002900.2:c.1609_1611del NP_002891.1:p.Val537del
NM_002900.3:c.1609_1611del MANE Select NP_002891.1:p.Val537del