Canonical Allele Identifier: CA698657198

Gene: RB1

Linked Data

• dbSNP Id: rs1199126808
• gnomAD v3: 13-48304183-G-GC
• gnomAD v4: 13-48304183-G-GC
• MyVariant Identifiers: chr13:g.48878319_48878320insC (hg19) ; chr13:g.48304183_48304184insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304189dup , CM000675.2:g.48304189dup	GRCh38
NC_000013.10:g.48878325dup , CM000675.1:g.48878325dup	GRCh37
NC_000013.9:g.47776326dup	NCBI36
NG_009009.1:g.5443dup , LRG_517:g.5443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+140dup MANE Select	ENSP00000267163.4:n.137+140dup
ENST00000646097.1:c.137+140dup	ENSP00000496556.1:n.137+140dup
ENST00000650461.1:c.137+140dup	ENSP00000497193.1:n.137+140dup
ENST00000267163.4:c.137+140dup	ENSP00000267163.4:n.137+140dup
ENST00000467505.5:c.137+140dup	ENSP00000434702.1:n.137+140dup
ENST00000525036.1:n.299+140dup
NM_000321.2:c.137+140dup , LRG_517t1:c.137+140dup	NP_000312.2:n.137+140dup
NM_000321.3:c.137+140dup MANE Select	NP_000312.2:n.137+140dup