Canonical Allele Identifier: CA026431
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167568
ClinVar RCV Id: RCV000153812 RCV000723933 RCV001483212 RCV002255133 RCV003975205
dbSNP Id: rs201258424
ExAC: 13:49039118 T / A
gnomAD v2: 13-49039118-T-A
gnomAD v3: 13-48464982-T-A
gnomAD v4: 13-48464982-T-A
MyVariant Identifiers: chr13:g.49039118T>A (hg19) chr13:g.49039118_49039122delinsAACTG (hg19) chr13:g.48464982T>A (hg38) chr13:g.48464982_48464986delinsAACTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464982T>A , CM000675.2:g.48464982T>A GRCh38
NC_000013.10:g.49039118T>A , CM000675.1:g.49039118T>A GRCh37
NC_000013.9:g.47937119T>A NCBI36
NG_009009.1:g.166236T>A , LRG_517:g.166236T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2212-16T>A MANE Select ENSP00000267163.4:n.2212-16T>A
ENST00000643064.1:c.194+83539T>A
ENST00000650461.1:c.2212-16T>A ENSP00000497193.1:n.2212-16T>A
ENST00000267163.4:c.2212-16T>A ENSP00000267163.4:n.2212-16T>A
NM_000321.2:c.2212-16T>A , LRG_517t1:c.2212-16T>A NP_000312.2:n.2212-16T>A
XM_011535171.1:c.1951-16T>A XP_011533473.1:n.1951-16T>A
XM_011535171.2:c.1951-16T>A XP_011533473.1:n.1951-16T>A
NM_000321.3:c.2212-16T>A MANE Select NP_000312.2:n.2212-16T>A
Search 100 bp 5'
Search 100 bp 3'