Canonical Allele Identifier: CA2622977307

Gene: RB1

Linked Data

• gnomAD v4: 13-48303987-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303988_48303989del , CM000675.2:g.48303988_48303989del	GRCh38
NC_000013.10:g.48878124_48878125del , CM000675.1:g.48878124_48878125del	GRCh37
NC_000013.9:g.47776125_47776126del	NCBI36
NG_009009.1:g.5242_5243del , LRG_517:g.5242_5243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.76_77del MANE Select	ENSP00000267163.4:p.Pro26AlafsTer4
ENST00000646097.1:c.76_77del	ENSP00000496556.1:p.Pro26AlafsTer4
ENST00000650461.1:c.76_77del	ENSP00000497193.1:p.Pro26AlafsTer4
ENST00000267163.4:c.76_77del	ENSP00000267163.4:p.Pro26AlafsTer4
ENST00000467505.5:c.76_77del	ENSP00000434702.1:p.Pro26AlafsTer4
ENST00000525036.1:n.238_239del
NM_000321.2:c.76_77del , LRG_517t1:c.76_77del	NP_000312.2:p.Pro26AlafsTer4
NM_000321.3:c.76_77del MANE Select	NP_000312.2:p.Pro26AlafsTer4