Canonical Allele Identifier: CA2089950560

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304107_48304137delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC , CM000675.2:g.48304107_48304137delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	GRCh38
NC_000013.10:g.48878243_48878273delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC , CM000675.1:g.48878243_48878273delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	GRCh37
NC_000013.9:g.47776244_47776274delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	NCBI36
NG_009009.1:g.5361_5391delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC , LRG_517:g.5361_5391delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC MANE Select	ENSP00000267163.4:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGG...
ENST00000646097.1:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	ENSP00000496556.1:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGG...
ENST00000650461.1:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	ENSP00000497193.1:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGG...
ENST00000267163.4:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	ENSP00000267163.4:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGG...
ENST00000467505.5:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	ENSP00000434702.1:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGG...
ENST00000525036.1:n.299+58_299+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC
NM_000321.2:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC , LRG_517t1:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC	NP_000312.2:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGA...
NM_000321.3:c.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGATCC MANE Select	NP_000312.2:n.137+58_137+88delinsGGCGGGCGCCAAGGCGGCTCGGCGGGGA...