Canonical Allele Identifier: CA2089972279
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952519282

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348667_48348668del , CM000675.2:g.48348667_48348668del GRCh38
NC_000013.10:g.48922803_48922804del , CM000675.1:g.48922803_48922804del GRCh37
NC_000013.9:g.47820804_47820805del NCBI36
NG_009009.1:g.49921_49922del , LRG_517:g.49921_49922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-289_540-288del MANE Select ENSP00000267163.4:n.540-289_540-288del
ENST00000650461.1:c.540-289_540-288del ENSP00000497193.1:n.540-289_540-288del
ENST00000267163.4:c.540-289_540-288del ENSP00000267163.4:n.540-289_540-288del
ENST00000467505.5:c.138-11350_138-11349del ENSP00000434702.1:n.138-11350_138-11349del
ENST00000525036.1:n.702-289_702-288del
NM_000321.2:c.540-289_540-288del , LRG_517t1:c.540-289_540-288del NP_000312.2:n.540-289_540-288del
XM_011535171.1:c.279-289_279-288del XP_011533473.1:n.279-289_279-288del
XM_011535171.2:c.279-289_279-288del XP_011533473.1:n.279-289_279-288del
NM_000321.3:c.540-289_540-288del MANE Select NP_000312.2:n.540-289_540-288del