Canonical Allele Identifier: CA2622979112
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48348865-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348870del , CM000675.2:g.48348870del GRCh38
NC_000013.10:g.48923006del , CM000675.1:g.48923006del GRCh37
NC_000013.9:g.47821007del NCBI36
NG_009009.1:g.50124del , LRG_517:g.50124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-86del MANE Select ENSP00000267163.4:n.540-86del
ENST00000650461.1:c.540-86del ENSP00000497193.1:n.540-86del
ENST00000267163.4:c.540-86del ENSP00000267163.4:n.540-86del
ENST00000467505.5:c.138-11147del ENSP00000434702.1:n.138-11147del
ENST00000525036.1:n.702-86del
NM_000321.2:c.540-86del , LRG_517t1:c.540-86del NP_000312.2:n.540-86del
XM_011535171.1:c.279-86del XP_011533473.1:n.279-86del
XM_011535171.2:c.279-86del XP_011533473.1:n.279-86del
NM_000321.3:c.540-86del MANE Select NP_000312.2:n.540-86del
Search 100 bp 5'
Search 100 bp 3'