Canonical Allele Identifier: CA2622977218

Gene: RB1

Linked Data

• gnomAD v4: 13-48303848-TGCGCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303852_48303857del , CM000675.2:g.48303852_48303857del	GRCh38
NC_000013.10:g.48877988_48877993del , CM000675.1:g.48877988_48877993del	GRCh37
NC_000013.9:g.47775989_47775994del	NCBI36
NG_009009.1:g.5106_5111del , LRG_517:g.5106_5111del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.-61_-56del MANE Select	ENSP00000267163.4:n.-61_-56del
ENST00000646097.1:c.-61_-56del	ENSP00000496556.1:n.-61_-56del
ENST00000650461.1:c.-61_-56del	ENSP00000497193.1:n.-61_-56del
ENST00000267163.4:c.-61_-56del	ENSP00000267163.4:n.-61_-56del
ENST00000467505.5:c.-61_-56del	ENSP00000434702.1:n.-61_-56del
ENST00000525036.1:n.102_107del
NM_000321.2:c.-61_-56del , LRG_517t1:c.-61_-56del	NP_000312.2:n.-61_-56del
NM_000321.3:c.-61_-56del MANE Select	NP_000312.2:n.-61_-56del