Canonical Allele Identifier: CA2575413511

Gene: RB1

Linked Data

• gnomAD v4: 13-48380229-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380231del , CM000675.2:g.48380231del	GRCh38
NC_000013.10:g.48954367del , CM000675.1:g.48954367del	GRCh37
NC_000013.9:g.47852368del	NCBI36
NG_009009.1:g.81485del , LRG_517:g.81485del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1488del MANE Select	ENSP00000267163.4:p.Thr497HisfsTer22
ENST00000650461.1:c.1488del	ENSP00000497193.1:p.Thr497HisfsTer22
ENST00000267163.4:c.1488del	ENSP00000267163.4:p.Thr497HisfsTer22
NM_000321.2:c.1488del , LRG_517t1:c.1488del	NP_000312.2:p.Thr497HisfsTer22
XM_011535171.1:c.1227del	XP_011533473.1:p.Thr410HisfsTer22
XM_011535171.2:c.1227del	XP_011533473.1:p.Thr410HisfsTer22
NM_000321.3:c.1488del MANE Select	NP_000312.2:p.Thr497HisfsTer22