Canonical Allele Identifier: CA2089972280

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348667_48348668delinsCT , CM000675.2:g.48348667_48348668delinsCT	GRCh38
NC_000013.10:g.48922803_48922804delinsCT , CM000675.1:g.48922803_48922804delinsCT	GRCh37
NC_000013.9:g.47820804_47820805delinsCT	NCBI36
NG_009009.1:g.49921_49922delinsCT , LRG_517:g.49921_49922delinsCT

Transcript Alleles

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