Canonical Allele Identifier: CA2574540252
Gene: RBP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350028_47350030del , CM000672.2:g.47350028_47350030del GRCh38
NC_000010.10:g.48389334_48389336del , CM000672.1:g.48389334_48389336del GRCh37
NC_000010.9:g.48009340_48009342del NCBI36
NG_029718.1:g.6658_6660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1544_1546del MANE Select ENSP00000463151.1:p.Asn515del
ENST00000584701.1:c.1544_1546del ENSP00000463151.1:p.Asn515del
NM_002900.2:c.1544_1546del NP_002891.1:p.Asn515del
NM_002900.3:c.1544_1546del MANE Select NP_002891.1:p.Asn515del