Canonical Allele Identifier: CA269697
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126806
ClinVar RCV Id: RCV000114698
dbSNP Id: rs587778851
MyVariant Identifiers: chr13:g.49050841dupC (hg19) chr13:g.48476705dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476705dup , CM000675.2:g.48476705dup GRCh38
NC_000013.10:g.49050841dup , CM000675.1:g.49050841dup GRCh37
NC_000013.9:g.47948842dup NCBI36
NG_009009.1:g.177959dup , LRG_517:g.177959dup

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2525dup MANE Select ENSP00000267163.4:p.Glu843Ter
ENST00000643064.1:c.194+95262dup
ENST00000650461.1:c.2525dup ENSP00000497193.1:p.Glu843Ter
ENST00000267163.4:c.2525dup ENSP00000267163.4:p.Glu843Ter
ENST00000484879.1:n.259dup
ENST00000531171.5:n.128dup
NM_000321.2:c.2525dup , LRG_517t1:c.2525dup NP_000312.2:p.Glu843Ter
XM_011535171.1:c.2264dup XP_011533473.1:p.Glu756Ter
XM_011535171.2:c.2264dup XP_011533473.1:p.Glu756Ter
NM_000321.3:c.2525dup MANE Select NP_000312.2:p.Glu843Ter
Search 100 bp 5'
Search 100 bp 3'