Canonical Allele Identifier: CA698656421

Gene: RB1

Linked Data

• dbSNP Id: rs1257252875
• gnomAD v4: 13-48303834-GGCGTGCCCCGACGTGC-G
• MyVariant Identifiers: chr13:g.48877971_48877986del (hg19) ; chr13:g.48303835_48303850del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303838_48303853del , CM000675.2:g.48303838_48303853del	GRCh38
NC_000013.10:g.48877974_48877989del , CM000675.1:g.48877974_48877989del	GRCh37
NC_000013.9:g.47775975_47775990del	NCBI36
NG_009009.1:g.5092_5107del , LRG_517:g.5092_5107del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.-75_-60del MANE Select	ENSP00000267163.4:n.-75_-60del
ENST00000646097.1:c.-75_-60del	ENSP00000496556.1:n.-75_-60del
ENST00000650461.1:c.-75_-60del	ENSP00000497193.1:n.-75_-60del
ENST00000267163.4:c.-75_-60del	ENSP00000267163.4:n.-75_-60del
ENST00000467505.5:c.-75_-60del	ENSP00000434702.1:n.-75_-60del
ENST00000525036.1:n.88_103del
NM_000321.2:c.-75_-60del , LRG_517t1:c.-75_-60del	NP_000312.2:n.-75_-60del
NM_000321.3:c.-75_-60del MANE Select	NP_000312.2:n.-75_-60del