Canonical Allele Identifier: CA2622977298
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48303939-GGCCGCCACCGCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303945_48303956del , CM000675.2:g.48303945_48303956del GRCh38
NC_000013.10:g.48878081_48878092del , CM000675.1:g.48878081_48878092del GRCh37
NC_000013.9:g.47776082_47776093del NCBI36
NG_009009.1:g.5199_5210del , LRG_517:g.5199_5210del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.33_44del MANE Select ENSP00000267163.4:p.Thr12_Ala15del
ENST00000646097.1:c.33_44del ENSP00000496556.1:p.Thr12_Ala15del
ENST00000650461.1:c.33_44del ENSP00000497193.1:p.Thr12_Ala15del
ENST00000267163.4:c.33_44del ENSP00000267163.4:p.Thr12_Ala15del
ENST00000467505.5:c.33_44del ENSP00000434702.1:p.Thr12_Ala15del
ENST00000525036.1:n.195_206del
NM_000321.2:c.33_44del , LRG_517t1:c.33_44del NP_000312.2:p.Thr12_Ala15del
NM_000321.3:c.33_44del MANE Select NP_000312.2:p.Thr12_Ala15del
Search 100 bp 5'
Search 100 bp 3'