Canonical Allele Identifier: CA2622980216

Gene: RB1

Linked Data

• gnomAD v4: 13-48365043-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48365045del , CM000675.2:g.48365045del	GRCh38
NC_000013.10:g.48939181del , CM000675.1:g.48939181del	GRCh37
NC_000013.9:g.47837182del	NCBI36
NG_009009.1:g.66299del , LRG_517:g.66299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.939+74del MANE Select	ENSP00000267163.4:n.939+74del
ENST00000650461.1:c.939+74del	ENSP00000497193.1:n.939+74del
ENST00000267163.4:c.939+74del	ENSP00000267163.4:n.939+74del
NM_000321.2:c.939+74del , LRG_517t1:c.939+74del	NP_000312.2:n.939+74del
XM_011535171.1:c.678+74del	XP_011533473.1:n.678+74del
XM_011535171.2:c.678+74del	XP_011533473.1:n.678+74del
XR_002957522.1:n.122-68del
NM_000321.3:c.939+74del MANE Select	NP_000312.2:n.939+74del