Canonical Allele Identifier: CA2089950695

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304185_48304190delinsCCCCCG , CM000675.2:g.48304185_48304190delinsCCCCCG	GRCh38
NC_000013.10:g.48878321_48878326delinsCCCCCG , CM000675.1:g.48878321_48878326delinsCCCCCG	GRCh37
NC_000013.9:g.47776322_47776327delinsCCCCCG	NCBI36
NG_009009.1:g.5439_5444delinsCCCCCG , LRG_517:g.5439_5444delinsCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+136_137+141delinsCCCCCG MANE Select	ENSP00000267163.4:n.137+136_137+141delinsCCCCCG
ENST00000646097.1:c.137+136_137+141delinsCCCCCG	ENSP00000496556.1:n.137+136_137+141delinsCCCCCG
ENST00000650461.1:c.137+136_137+141delinsCCCCCG	ENSP00000497193.1:n.137+136_137+141delinsCCCCCG
ENST00000267163.4:c.137+136_137+141delinsCCCCCG	ENSP00000267163.4:n.137+136_137+141delinsCCCCCG
ENST00000467505.5:c.137+136_137+141delinsCCCCCG	ENSP00000434702.1:n.137+136_137+141delinsCCCCCG
ENST00000525036.1:n.299+136_299+141delinsCCCCCG
NM_000321.2:c.137+136_137+141delinsCCCCCG , LRG_517t1:c.137+136_137+141delinsCCCCCG	NP_000312.2:n.137+136_137+141delinsCCCCCG
NM_000321.3:c.137+136_137+141delinsCCCCCG MANE Select	NP_000312.2:n.137+136_137+141delinsCCCCCG