Canonical Allele Identifier: CA2622977480

Gene: RB1

Linked Data

• gnomAD v4: 13-48304163-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304165_48304166del , CM000675.2:g.48304165_48304166del	GRCh38
NC_000013.10:g.48878301_48878302del , CM000675.1:g.48878301_48878302del	GRCh37
NC_000013.9:g.47776302_47776303del	NCBI36
NG_009009.1:g.5419_5420del , LRG_517:g.5419_5420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+116_137+117del MANE Select	ENSP00000267163.4:n.137+116_137+117del
ENST00000646097.1:c.137+116_137+117del	ENSP00000496556.1:n.137+116_137+117del
ENST00000650461.1:c.137+116_137+117del	ENSP00000497193.1:n.137+116_137+117del
ENST00000267163.4:c.137+116_137+117del	ENSP00000267163.4:n.137+116_137+117del
ENST00000467505.5:c.137+116_137+117del	ENSP00000434702.1:n.137+116_137+117del
ENST00000525036.1:n.299+116_299+117del
NM_000321.2:c.137+116_137+117del , LRG_517t1:c.137+116_137+117del	NP_000312.2:n.137+116_137+117del
NM_000321.3:c.137+116_137+117del MANE Select	NP_000312.2:n.137+116_137+117del