Canonical Allele Identifier: CA2089949954

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303947_48303976delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG , CM000675.2:g.48303947_48303976delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	GRCh38
NC_000013.10:g.48878083_48878112delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG , CM000675.1:g.48878083_48878112delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	GRCh37
NC_000013.9:g.47776084_47776113delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	NCBI36
NG_009009.1:g.5201_5230delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG , LRG_517:g.5201_5230delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG MANE Select	ENSP00000267163.4:p.Thr12=
ENST00000646097.1:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	ENSP00000496556.1:p.Thr12=
ENST00000650461.1:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	ENSP00000497193.1:p.Thr12=
ENST00000267163.4:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	ENSP00000267163.4:p.Thr12=
ENST00000467505.5:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	ENSP00000434702.1:p.Thr12=
ENST00000525036.1:n.197_226delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG
NM_000321.2:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG , LRG_517t1:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG	NP_000312.2:p.Thr12=
NM_000321.3:c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG MANE Select	NP_000312.2:p.Thr12=