Canonical Allele Identifier: CA2622977310

Gene: RB1

Linked Data

• gnomAD v4: 13-48303998-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303999del , CM000675.2:g.48303999del	GRCh38
NC_000013.10:g.48878135del , CM000675.1:g.48878135del	GRCh37
NC_000013.9:g.47776136del	NCBI36
NG_009009.1:g.5253del , LRG_517:g.5253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.87del MANE Select	ENSP00000267163.4:p.Glu30ArgfsTer?
ENST00000646097.1:c.87del	ENSP00000496556.1:p.Glu30ArgfsTer?
ENST00000650461.1:c.87del	ENSP00000497193.1:p.Glu30ArgfsTer?
ENST00000267163.4:c.87del	ENSP00000267163.4:p.Glu30ArgfsTer?
ENST00000467505.5:c.87del	ENSP00000434702.1:p.Glu30ArgfsTer?
ENST00000525036.1:n.249del
NM_000321.2:c.87del , LRG_517t1:c.87del	NP_000312.2:p.Glu30ArgfsTer?
NM_000321.3:c.87del MANE Select	NP_000312.2:p.Glu30ArgfsTer?