Canonical Allele Identifier: CA698657142

Gene: RB1

Linked Data

• dbSNP Id: rs1159818736
• gnomAD v3: 13-48304101-G-GCC
• gnomAD v4: 13-48304101-G-GCC
• MyVariant Identifiers: chr13:g.48878237_48878238insCC (hg19) ; chr13:g.48304101_48304102insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304102_48304103insCC , CM000675.2:g.48304102_48304103insCC	GRCh38
NC_000013.10:g.48878238_48878239insCC , CM000675.1:g.48878238_48878239insCC	GRCh37
NC_000013.9:g.47776239_47776240insCC	NCBI36
NG_009009.1:g.5356_5357insCC , LRG_517:g.5356_5357insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+53_137+54insCC MANE Select	ENSP00000267163.4:n.137+53_137+54insCC
ENST00000646097.1:c.137+53_137+54insCC	ENSP00000496556.1:n.137+53_137+54insCC
ENST00000650461.1:c.137+53_137+54insCC	ENSP00000497193.1:n.137+53_137+54insCC
ENST00000267163.4:c.137+53_137+54insCC	ENSP00000267163.4:n.137+53_137+54insCC
ENST00000467505.5:c.137+53_137+54insCC	ENSP00000434702.1:n.137+53_137+54insCC
ENST00000525036.1:n.299+53_299+54insCC
NM_000321.2:c.137+53_137+54insCC , LRG_517t1:c.137+53_137+54insCC	NP_000312.2:n.137+53_137+54insCC
NM_000321.3:c.137+53_137+54insCC MANE Select	NP_000312.2:n.137+53_137+54insCC