Canonical Allele Identifier: CA2622977458

Gene: RB1

Linked Data

• gnomAD v4: 13-48304153-CGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304154_48304157del , CM000675.2:g.48304154_48304157del	GRCh38
NC_000013.10:g.48878290_48878293del , CM000675.1:g.48878290_48878293del	GRCh37
NC_000013.9:g.47776291_47776294del	NCBI36
NG_009009.1:g.5408_5411del , LRG_517:g.5408_5411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+105_137+108del MANE Select	ENSP00000267163.4:n.137+105_137+108del
ENST00000646097.1:c.137+105_137+108del	ENSP00000496556.1:n.137+105_137+108del
ENST00000650461.1:c.137+105_137+108del	ENSP00000497193.1:n.137+105_137+108del
ENST00000267163.4:c.137+105_137+108del	ENSP00000267163.4:n.137+105_137+108del
ENST00000467505.5:c.137+105_137+108del	ENSP00000434702.1:n.137+105_137+108del
ENST00000525036.1:n.299+105_299+108del
NM_000321.2:c.137+105_137+108del , LRG_517t1:c.137+105_137+108del	NP_000312.2:n.137+105_137+108del
NM_000321.3:c.137+105_137+108del MANE Select	NP_000312.2:n.137+105_137+108del