Canonical Allele Identifier: CA249281835
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1231152
ClinVar RCV Id: RCV001609808
dbSNP Id: rs11351399
gnomAD v2: 13-48955319-CA-C
gnomAD v3: 13-48381183-CA-C
gnomAD v4: 13-48381183-CA-C
MyVariant Identifiers: chr13:g.48955320del (hg19) chr13:g.48381184del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381190del , CM000675.2:g.48381190del GRCh38
NC_000013.10:g.48955326del , CM000675.1:g.48955326del GRCh37
NC_000013.9:g.47853327del NCBI36
NG_009009.1:g.82444del , LRG_517:g.82444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-57del MANE Select ENSP00000267163.4:n.1499-57del
ENST00000650461.1:c.1499-57del ENSP00000497193.1:n.1499-57del
ENST00000267163.4:c.1499-57del ENSP00000267163.4:n.1499-57del
NM_000321.2:c.1499-57del , LRG_517t1:c.1499-57del NP_000312.2:n.1499-57del
XM_011535171.1:c.1238-57del XP_011533473.1:n.1238-57del
XM_011535171.2:c.1238-57del XP_011533473.1:n.1238-57del
NM_000321.3:c.1499-57del MANE Select NP_000312.2:n.1499-57del
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