Canonical Allele Identifier: CA2622977433

Gene: RB1

Linked Data

• gnomAD v4: 13-48304142-TCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304144_48304145del , CM000675.2:g.48304144_48304145del	GRCh38
NC_000013.10:g.48878280_48878281del , CM000675.1:g.48878280_48878281del	GRCh37
NC_000013.9:g.47776281_47776282del	NCBI36
NG_009009.1:g.5398_5399del , LRG_517:g.5398_5399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+95_137+96del MANE Select	ENSP00000267163.4:n.137+95_137+96del
ENST00000646097.1:c.137+95_137+96del	ENSP00000496556.1:n.137+95_137+96del
ENST00000650461.1:c.137+95_137+96del	ENSP00000497193.1:n.137+95_137+96del
ENST00000267163.4:c.137+95_137+96del	ENSP00000267163.4:n.137+95_137+96del
ENST00000467505.5:c.137+95_137+96del	ENSP00000434702.1:n.137+95_137+96del
ENST00000525036.1:n.299+95_299+96del
NM_000321.2:c.137+95_137+96del , LRG_517t1:c.137+95_137+96del	NP_000312.2:n.137+95_137+96del
NM_000321.3:c.137+95_137+96del MANE Select	NP_000312.2:n.137+95_137+96del