Canonical Allele Identifier: CA609859297
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428670
ClinVar RCV Id: RCV000492515 RCV000795397 RCV003222002
dbSNP Id: rs1131690852
gnomAD v2: 13-48878061-A-AC
gnomAD v4: 13-48303925-A-AC
MyVariant Identifiers: chr13:g.48878067dup (hg19) chr13:g.48878062_48878063insC (hg19) chr13:g.48303931dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303931dup , CM000675.2:g.48303931dup GRCh38
NC_000013.10:g.48878067dup , CM000675.1:g.48878067dup GRCh37
NC_000013.9:g.47776068dup NCBI36
NG_009009.1:g.5185dup , LRG_517:g.5185dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.19dup MANE Select ENSP00000267163.4:p.Arg7ProfsTer24
ENST00000646097.1:c.19dup ENSP00000496556.1:p.Arg7ProfsTer24
ENST00000650461.1:c.19dup ENSP00000497193.1:p.Arg7ProfsTer24
ENST00000267163.4:c.19dup ENSP00000267163.4:p.Arg7ProfsTer24
ENST00000467505.5:c.19dup ENSP00000434702.1:p.Arg7ProfsTer24
ENST00000525036.1:n.181dup
NM_000321.2:c.19dup , LRG_517t1:c.19dup NP_000312.2:p.Arg7ProfsTer24
NM_000321.3:c.19dup MANE Select NP_000312.2:p.Arg7ProfsTer24
Search 100 bp 5'
Search 100 bp 3'