Canonical Allele Identifier: CA2089950648
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952056704

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304155_48304156insA , CM000675.2:g.48304155_48304156insA GRCh38
NC_000013.10:g.48878291_48878292insA , CM000675.1:g.48878291_48878292insA GRCh37
NC_000013.9:g.47776292_47776293insA NCBI36
NG_009009.1:g.5409_5410insA , LRG_517:g.5409_5410insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+106_137+107insA MANE Select ENSP00000267163.4:n.137+106_137+107insA
ENST00000646097.1:c.137+106_137+107insA ENSP00000496556.1:n.137+106_137+107insA
ENST00000650461.1:c.137+106_137+107insA ENSP00000497193.1:n.137+106_137+107insA
ENST00000267163.4:c.137+106_137+107insA ENSP00000267163.4:n.137+106_137+107insA
ENST00000467505.5:c.137+106_137+107insA ENSP00000434702.1:n.137+106_137+107insA
ENST00000525036.1:n.299+106_299+107insA
NM_000321.2:c.137+106_137+107insA , LRG_517t1:c.137+106_137+107insA NP_000312.2:n.137+106_137+107insA
NM_000321.3:c.137+106_137+107insA MANE Select NP_000312.2:n.137+106_137+107insA