Canonical Allele Identifier: CA2499222421

Gene: RB1

Linked Data

• ClinVar Variation Id: 1070330
• ClinVar RCV Id: RCV001382439
• dbSNP Id: rs2138027218
• gnomAD v4: 13-48303946-ACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCACCGCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303955_48303992del , CM000675.2:g.48303955_48303992del	GRCh38
NC_000013.10:g.48878091_48878128del , CM000675.1:g.48878091_48878128del	GRCh37
NC_000013.9:g.47776092_47776129del	NCBI36
NG_009009.1:g.5209_5246del , LRG_517:g.5209_5246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.43_80del MANE Select	ENSP00000267163.4:p.Ala15ProfsTer3
ENST00000646097.1:c.43_80del	ENSP00000496556.1:p.Ala15ProfsTer3
ENST00000650461.1:c.43_80del	ENSP00000497193.1:p.Ala15ProfsTer3
ENST00000267163.4:c.43_80del	ENSP00000267163.4:p.Ala15ProfsTer3
ENST00000467505.5:c.43_80del	ENSP00000434702.1:p.Ala15ProfsTer3
ENST00000525036.1:n.205_242del
NM_000321.2:c.43_80del , LRG_517t1:c.43_80del	NP_000312.2:p.Ala15ProfsTer3
NM_000321.3:c.43_80del MANE Select	NP_000312.2:p.Ala15ProfsTer3