Canonical Allele Identifier: CA2695218351

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349024del , CM000675.2:g.48349024del	GRCh38
NC_000013.10:g.48923160del , CM000675.1:g.48923160del	GRCh37
NC_000013.9:g.47821161del	NCBI36
NG_009009.1:g.50278del , LRG_517:g.50278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.607+1del
ENST00000650461.1:c.607+1del
ENST00000267163.4:c.607+1del
ENST00000467505.5:c.138-10993del	ENSP00000434702.1:n.138-10993del
ENST00000525036.1:n.769+1del
NM_000321.2:c.607+1del , LRG_517t1:c.607+1del
XM_011535171.1:c.346+1del
XM_011535171.2:c.346+1del
NM_000321.3:c.607+1del