Canonical Allele Identifier: CA609931813
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1471476139
gnomAD v2: 13-48877794-CCA-C
gnomAD v3: 13-48303658-CCA-C
gnomAD v4: 13-48303658-CCA-C
MyVariant Identifiers: chr13:g.48877795_48877796del (hg19) chr13:g.48303659_48303660del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303659_48303660del , CM000675.2:g.48303659_48303660del GRCh38
NC_000013.10:g.48877795_48877796del , CM000675.1:g.48877795_48877796del GRCh37
NC_000013.9:g.47775796_47775797del NCBI36
NG_009009.1:g.4913_4914del , LRG_517:g.4913_4914del

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.2_3del
NR_046414.2:n.43_44del
Search 100 bp 5'
Search 100 bp 3'