Canonical Allele Identifier: CA2622977313

Gene: RB1

Linked Data

• gnomAD v4: 13-48304014-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304015del , CM000675.2:g.48304015del	GRCh38
NC_000013.10:g.48878151del , CM000675.1:g.48878151del	GRCh37
NC_000013.9:g.47776152del	NCBI36
NG_009009.1:g.5269del , LRG_517:g.5269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.103del MANE Select	ENSP00000267163.4:p.Gln35ArgfsTer30
ENST00000646097.1:c.103del	ENSP00000496556.1:p.Gln35ArgfsTer30
ENST00000650461.1:c.103del	ENSP00000497193.1:p.Gln35ArgfsTer30
ENST00000267163.4:c.103del	ENSP00000267163.4:p.Gln35ArgfsTer30
ENST00000467505.5:c.103del	ENSP00000434702.1:p.Gln35ArgfsTer?
ENST00000525036.1:n.265del
NM_000321.2:c.103del , LRG_517t1:c.103del	NP_000312.2:p.Gln35ArgfsTer30
NM_000321.3:c.103del MANE Select	NP_000312.2:p.Gln35ArgfsTer30