Canonical Allele Identifier: CA026382
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92840
ClinVar RCV Id: RCV000175134
dbSNP Id: rs398123332

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381333dup , CM000675.2:g.48381333dup GRCh38
NC_000013.10:g.48955469dup , CM000675.1:g.48955469dup GRCh37
NC_000013.9:g.47853470dup NCBI36
NG_009009.1:g.82587dup , LRG_517:g.82587dup

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1585dup MANE Select ENSP00000267163.4:p.Tyr529LeufsTer26
ENST00000643064.1:c.84dup
ENST00000650461.1:c.1585dup ENSP00000497193.1:p.Tyr529LeufsTer26
ENST00000267163.4:c.1585dup ENSP00000267163.4:p.Tyr529LeufsTer26
NM_000321.2:c.1585dup , LRG_517t1:c.1585dup NP_000312.2:p.Tyr529LeufsTer26
XM_011535171.1:c.1324dup XP_011533473.1:p.Tyr442LeufsTer26
XM_011535171.2:c.1324dup XP_011533473.1:p.Tyr442LeufsTer26
NM_000321.3:c.1585dup MANE Select NP_000312.2:p.Tyr529LeufsTer26