Canonical Allele Identifier: CA16614430
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410951
ClinVar RCV Id: RCV000462003
dbSNP Id: rs1064792974
MyVariant Identifiers: chr13:g.48878085_48878113del (hg19) chr13:g.48303949_48303977del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303949_48303977del , CM000675.2:g.48303949_48303977del GRCh38
NC_000013.10:g.48878085_48878113del , CM000675.1:g.48878085_48878113del GRCh37
NC_000013.9:g.47776086_47776114del NCBI36
NG_009009.1:g.5203_5231del , LRG_517:g.5203_5231del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.37_65del MANE Select ENSP00000267163.4:p.Ala13ThrfsTer8
ENST00000646097.1:c.37_65del ENSP00000496556.1:p.Ala13ThrfsTer8
ENST00000650461.1:c.37_65del ENSP00000497193.1:p.Ala13ThrfsTer8
ENST00000267163.4:c.37_65del ENSP00000267163.4:p.Ala13ThrfsTer8
ENST00000467505.5:c.37_65del ENSP00000434702.1:p.Ala13ThrfsTer8
ENST00000525036.1:n.199_227del
NM_000321.2:c.37_65del , LRG_517t1:c.37_65del NP_000312.2:p.Ala13ThrfsTer8
NM_000321.3:c.37_65del MANE Select NP_000312.2:p.Ala13ThrfsTer8
Search 100 bp 5'
Search 100 bp 3'