Canonical Allele Identifier: CA2622977305

Gene: RB1

Linked Data

• gnomAD v4: 13-48303957-TGCCGCCGCGGAACCCCCGGCACCGCCGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303964_48303992del , CM000675.2:g.48303964_48303992del	GRCh38
NC_000013.10:g.48878100_48878128del , CM000675.1:g.48878100_48878128del	GRCh37
NC_000013.9:g.47776101_47776129del	NCBI36
NG_009009.1:g.5218_5246del , LRG_517:g.5218_5246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.52_80del MANE Select	ENSP00000267163.4:p.Ala18ProfsTer3
ENST00000646097.1:c.52_80del	ENSP00000496556.1:p.Ala18ProfsTer3
ENST00000650461.1:c.52_80del	ENSP00000497193.1:p.Ala18ProfsTer3
ENST00000267163.4:c.52_80del	ENSP00000267163.4:p.Ala18ProfsTer3
ENST00000467505.5:c.52_80del	ENSP00000434702.1:p.Ala18ProfsTer3
ENST00000525036.1:n.214_242del
NM_000321.2:c.52_80del , LRG_517t1:c.52_80del	NP_000312.2:p.Ala18ProfsTer3
NM_000321.3:c.52_80del MANE Select	NP_000312.2:p.Ala18ProfsTer3