Canonical Allele Identifier: CA2622977104
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48303757-CGGGCGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303761_48303766del , CM000675.2:g.48303761_48303766del GRCh38
NC_000013.10:g.48877897_48877902del , CM000675.1:g.48877897_48877902del GRCh37
NC_000013.9:g.47775898_47775903del NCBI36
NG_009009.1:g.5015_5020del , LRG_517:g.5015_5020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-152_-147del MANE Select ENSP00000267163.4:n.-152_-147del
ENST00000646097.1:c.-152_-147del ENSP00000496556.1:n.-152_-147del
ENST00000650461.1:c.-152_-147del ENSP00000497193.1:n.-152_-147del
ENST00000525036.1:n.11_16del
NM_000321.2:c.-152_-147del , LRG_517t1:c.-152_-147del NP_000312.2:n.-152_-147del
NM_000321.3:c.-152_-147del MANE Select NP_000312.2:n.-152_-147del
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