Canonical Allele Identifier: CA2089949648

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303834_48303850delinsGGCGTGCCCCGACGTGC , CM000675.2:g.48303834_48303850delinsGGCGTGCCCCGACGTGC	GRCh38
NC_000013.10:g.48877970_48877986delinsGGCGTGCCCCGACGTGC , CM000675.1:g.48877970_48877986delinsGGCGTGCCCCGACGTGC	GRCh37
NC_000013.9:g.47775971_47775987delinsGGCGTGCCCCGACGTGC	NCBI36
NG_009009.1:g.5088_5104delinsGGCGTGCCCCGACGTGC , LRG_517:g.5088_5104delinsGGCGTGCCCCGACGTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.-79_-63delinsGGCGTGCCCCGACGTGC MANE Select	ENSP00000267163.4:n.-79_-63delinsGGCGTGCC...
ENST00000646097.1:c.-79_-63delinsGGCGTGCCCCGACGTGC	ENSP00000496556.1:n.-79_-63delinsGGCGTGCC...
ENST00000650461.1:c.-79_-63delinsGGCGTGCCCCGACGTGC	ENSP00000497193.1:n.-79_-63delinsGGCGTGCC...
ENST00000267163.4:c.-79_-63delinsGGCGTGCCCCGACGTGC	ENSP00000267163.4:n.-79_-63delinsGGCGTGCC...
ENST00000467505.5:c.-79_-63delinsGGCGTGCCCCGACGTGC	ENSP00000434702.1:n.-79_-63delinsGGCGTGCC...
ENST00000525036.1:n.84_100delinsGGCGTGCCCCGACGTGC
NM_000321.2:c.-79_-63delinsGGCGTGCCCCGACGTGC , LRG_517t1:c.-79_-63delinsGGCGTGCCCCGACGTGC	NP_000312.2:n.-79_-63delinsGGCGTGCCCCGACG...
NM_000321.3:c.-79_-63delinsGGCGTGCCCCGACGTGC MANE Select	NP_000312.2:n.-79_-63delinsGGCGTGCCCCGACG...