Canonical Allele Identifier: CA2622977476

Gene: RB1

Linked Data

• gnomAD v4: 13-48304160-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304160_48304161insCT , CM000675.2:g.48304160_48304161insCT	GRCh38
NC_000013.10:g.48878296_48878297insCT , CM000675.1:g.48878296_48878297insCT	GRCh37
NC_000013.9:g.47776297_47776298insCT	NCBI36
NG_009009.1:g.5414_5415insCT , LRG_517:g.5414_5415insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+111_137+112insCT MANE Select	ENSP00000267163.4:n.137+111_137+112insCT
ENST00000646097.1:c.137+111_137+112insCT	ENSP00000496556.1:n.137+111_137+112insCT
ENST00000650461.1:c.137+111_137+112insCT	ENSP00000497193.1:n.137+111_137+112insCT
ENST00000267163.4:c.137+111_137+112insCT	ENSP00000267163.4:n.137+111_137+112insCT
ENST00000467505.5:c.137+111_137+112insCT	ENSP00000434702.1:n.137+111_137+112insCT
ENST00000525036.1:n.299+111_299+112insCT
NM_000321.2:c.137+111_137+112insCT , LRG_517t1:c.137+111_137+112insCT	NP_000312.2:n.137+111_137+112insCT
NM_000321.3:c.137+111_137+112insCT MANE Select	NP_000312.2:n.137+111_137+112insCT