Canonical Allele Identifier: CA026448
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 126809
ClinVar RCV Id: RCV000114701
dbSNP Id: rs587778825
MyVariant Identifiers: chr13:g.48916775_48916776del (hg19) chr13:g.48916774_48916775del (hg19) chr13:g.48342639_48342640del (hg38) chr13:g.48342638_48342639del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342639_48342640del , CM000675.2:g.48342639_48342640del GRCh38
NC_000013.10:g.48916775_48916776del , CM000675.1:g.48916775_48916776del GRCh37
NC_000013.9:g.47814776_47814777del NCBI36
NG_009009.1:g.43893_43894del , LRG_517:g.43893_43894del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.305_306del MANE Select ENSP00000267163.4:p.Cys102TyrfsTer7
ENST00000650461.1:c.305_306del ENSP00000497193.1:p.Cys102TyrfsTer7
ENST00000267163.4:c.305_306del ENSP00000267163.4:p.Cys102TyrfsTer7
ENST00000467505.5:c.138-17378_138-17377del ENSP00000434702.1:n.138-17378_138-17377de...
ENST00000525036.1:n.467_468del
NM_000321.2:c.305_306del , LRG_517t1:c.305_306del NP_000312.2:p.Cys102TyrfsTer7
XM_011535171.1:c.44_45del XP_011533473.1:p.Cys15TyrfsTer7
XM_011535171.2:c.44_45del XP_011533473.1:p.Cys15TyrfsTer7
NM_000321.3:c.305_306del MANE Select NP_000312.2:p.Cys102TyrfsTer7
Search 100 bp 5'
Search 100 bp 3'