Canonical Allele Identifier: CA915948556
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657941
ClinVar RCV Id: RCV000814656
dbSNP Id: rs1593457156
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381434dup , CM000675.2:g.48381434dup GRCh38
NC_000013.10:g.48955570dup , CM000675.1:g.48955570dup GRCh37
NC_000013.9:g.47853571dup NCBI36
NG_009009.1:g.82688dup , LRG_517:g.82688dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1686dup MANE Select ENSP00000267163.4:p.Trp563MetfsTer9
ENST00000643064.1:c.185dup
ENST00000650461.1:c.1686dup ENSP00000497193.1:p.Trp563MetfsTer9
ENST00000267163.4:c.1686dup ENSP00000267163.4:p.Trp563MetfsTer9
NM_000321.2:c.1686dup , LRG_517t1:c.1686dup NP_000312.2:p.Trp563MetfsTer9
XM_011535171.1:c.1425dup XP_011533473.1:p.Trp476MetfsTer9
XM_011535171.2:c.1425dup XP_011533473.1:p.Trp476MetfsTer9
NM_000321.3:c.1686dup MANE Select NP_000312.2:p.Trp563MetfsTer9
Search 100 bp 5'
Search 100 bp 3'