Canonical Allele Identifier: CA2622977146
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48303788-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303792del , CM000675.2:g.48303792del GRCh38
NC_000013.10:g.48877928del , CM000675.1:g.48877928del GRCh37
NC_000013.9:g.47775929del NCBI36
NG_009009.1:g.5046del , LRG_517:g.5046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-121del MANE Select ENSP00000267163.4:n.-121del
ENST00000646097.1:c.-121del ENSP00000496556.1:n.-121del
ENST00000650461.1:c.-121del ENSP00000497193.1:n.-121del
ENST00000267163.4:c.-121del ENSP00000267163.4:n.-121del
ENST00000467505.5:c.-121del ENSP00000434702.1:n.-121del
ENST00000525036.1:n.42del
NM_000321.2:c.-121del , LRG_517t1:c.-121del NP_000312.2:n.-121del
NM_000321.3:c.-121del MANE Select NP_000312.2:n.-121del
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