Canonical Allele Identifier: CA2089950522

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304085_48304109delinsAGGGCGCCCCGGGTGTGCGTAGGGC , CM000675.2:g.48304085_48304109delinsAGGGCGCCCCGGGTGTGCGTAGGGC	GRCh38
NC_000013.10:g.48878221_48878245delinsAGGGCGCCCCGGGTGTGCGTAGGGC , CM000675.1:g.48878221_48878245delinsAGGGCGCCCCGGGTGTGCGTAGGGC	GRCh37
NC_000013.9:g.47776222_47776246delinsAGGGCGCCCCGGGTGTGCGTAGGGC	NCBI36
NG_009009.1:g.5339_5363delinsAGGGCGCCCCGGGTGTGCGTAGGGC , LRG_517:g.5339_5363delinsAGGGCGCCCCGGGTGTGCGTAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC MANE Select	ENSP00000267163.4:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAG...
ENST00000646097.1:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC	ENSP00000496556.1:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAG...
ENST00000650461.1:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC	ENSP00000497193.1:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAG...
ENST00000267163.4:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC	ENSP00000267163.4:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAG...
ENST00000467505.5:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC	ENSP00000434702.1:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAG...
ENST00000525036.1:n.299+36_299+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC
NM_000321.2:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC , LRG_517t1:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC	NP_000312.2:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC
NM_000321.3:c.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC MANE Select	NP_000312.2:n.137+36_137+60delinsAGGGCGCCCCGGGTGTGCGTAGGGC