Canonical Allele Identifier: CA483559018
Gene: RB1 HGNC NCBI

Linked Data

COSMIC: COSM863
MyVariant Identifiers: chr13:g.49033894del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459758del , CM000675.2:g.48459758del GRCh38
NC_000013.10:g.49033894del , CM000675.1:g.49033894del GRCh37
NC_000013.9:g.47931895del NCBI36
NG_009009.1:g.161012del , LRG_517:g.161012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2031del MANE Select ENSP00000267163.4:p.Glu677AspfsTer19
ENST00000643064.1:c.194+78315del
ENST00000650461.1:c.2031del ENSP00000497193.1:p.Glu677AspfsTer19
ENST00000267163.4:c.2031del ENSP00000267163.4:p.Glu677AspfsTer19
NM_000321.2:c.2031del , LRG_517t1:c.2031del NP_000312.2:p.Glu677AspfsTer19
XM_011535171.1:c.1770del XP_011533473.1:p.Glu590AspfsTer19
XM_011535171.2:c.1770del XP_011533473.1:p.Glu590AspfsTer19
NM_000321.3:c.2031del MANE Select NP_000312.2:p.Glu677AspfsTer19
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