Canonical Allele Identifier: CA249841990
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs910501016
gnomAD v3: 13-48303682-GC-G
gnomAD v4: 13-48303682-GC-G
MyVariant Identifiers: chr13:g.48877819del (hg19) chr13:g.48303683del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303685del , CM000675.2:g.48303685del GRCh38
NC_000013.10:g.48877821del , CM000675.1:g.48877821del GRCh37
NC_000013.9:g.47775822del NCBI36
NG_009009.1:g.4939del , LRG_517:g.4939del

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.20del
Search 100 bp 5'
Search 100 bp 3'