Canonical Allele Identifier: CA955793587
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v3: 13-48348680-ATT-A
gnomAD v4: 13-48348680-ATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348690_48348691del , CM000675.2:g.48348690_48348691del GRCh38
NC_000013.10:g.48922826_48922827del , CM000675.1:g.48922826_48922827del GRCh37
NC_000013.9:g.47820827_47820828del NCBI36
NG_009009.1:g.49944_49945del , LRG_517:g.49944_49945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-266_540-265del MANE Select ENSP00000267163.4:n.540-266_540-265del
ENST00000650461.1:c.540-266_540-265del ENSP00000497193.1:n.540-266_540-265del
ENST00000267163.4:c.540-266_540-265del ENSP00000267163.4:n.540-266_540-265del
ENST00000467505.5:c.138-11327_138-11326del ENSP00000434702.1:n.138-11327_138-11326del
ENST00000525036.1:n.702-266_702-265del
NM_000321.2:c.540-266_540-265del , LRG_517t1:c.540-266_540-265del NP_000312.2:n.540-266_540-265del
XM_011535171.1:c.279-266_279-265del XP_011533473.1:n.279-266_279-265del
XM_011535171.2:c.279-266_279-265del XP_011533473.1:n.279-266_279-265del
NM_000321.3:c.540-266_540-265del MANE Select NP_000312.2:n.540-266_540-265del
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