Canonical Allele Identifier: CA6978876

Gene: RB1

Linked Data

• ClinVar Variation Id: 486294
• ClinVar RCV Id: RCV000820387 ; RCV000565292
• dbSNP Id: rs587778823
• ExAC: 13:48878114 A / ACCG
• gnomAD v2: 13-48878114-A-ACCG
• gnomAD v3: 13-48303978-A-ACCG
• gnomAD v4: 13-48303978-A-ACCG
• MyVariant Identifiers: chr13:g.48878126_48878128dup (hg19) ; chr13:g.48878117_48878118insCCG (hg19) ; chr13:g.48878114_48878115insCCG (hg19) ; chr13:g.48303990_48303992dup (hg38) ; chr13:g.48303978_48303979insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303990_48303992dup , CM000675.2:g.48303990_48303992dup	GRCh38
NC_000013.10:g.48878126_48878128dup , CM000675.1:g.48878126_48878128dup	GRCh37
NC_000013.9:g.47776127_47776129dup	NCBI36
NG_009009.1:g.5244_5246dup , LRG_517:g.5244_5246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.78_80dup MANE Select	ENSP00000267163.4:p.Pro27_Pro28insPro
ENST00000646097.1:c.78_80dup	ENSP00000496556.1:p.Pro27_Pro28insPro
ENST00000650461.1:c.78_80dup	ENSP00000497193.1:p.Pro27_Pro28insPro
ENST00000267163.4:c.78_80dup	ENSP00000267163.4:p.Pro27_Pro28insPro
ENST00000467505.5:c.78_80dup	ENSP00000434702.1:p.Pro27_Pro28insPro
ENST00000525036.1:n.240_242dup
NM_000321.2:c.78_80dup , LRG_517t1:c.78_80dup	NP_000312.2:p.Pro27_Pro28insPro
NM_000321.3:c.78_80dup MANE Select	NP_000312.2:p.Pro27_Pro28insPro