Canonical Allele Identifier: CA2622977215

Gene: RB1

Linked Data

• gnomAD v4: 13-48303846-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303848_48303849del , CM000675.2:g.48303848_48303849del	GRCh38
NC_000013.10:g.48877984_48877985del , CM000675.1:g.48877984_48877985del	GRCh37
NC_000013.9:g.47775985_47775986del	NCBI36
NG_009009.1:g.5102_5103del , LRG_517:g.5102_5103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.-65_-64del MANE Select	ENSP00000267163.4:n.-65_-64del
ENST00000646097.1:c.-65_-64del	ENSP00000496556.1:n.-65_-64del
ENST00000650461.1:c.-65_-64del	ENSP00000497193.1:n.-65_-64del
ENST00000267163.4:c.-65_-64del	ENSP00000267163.4:n.-65_-64del
ENST00000467505.5:c.-65_-64del	ENSP00000434702.1:n.-65_-64del
ENST00000525036.1:n.98_99del
NM_000321.2:c.-65_-64del , LRG_517t1:c.-65_-64del	NP_000312.2:n.-65_-64del
NM_000321.3:c.-65_-64del MANE Select	NP_000312.2:n.-65_-64del