Canonical Allele Identifier: CA645369542
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428693
ClinVar RCV Id: RCV000492572
dbSNP Id: rs1131690872
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368549_48368551delinsGG , CM000675.2:g.48368549_48368551delinsGG GRCh38
NC_000013.10:g.48942685_48942687delinsGG , CM000675.1:g.48942685_48942687delinsGG GRCh37
NC_000013.9:g.47840686_47840688delinsGG NCBI36
NG_009009.1:g.69803_69805delinsGG , LRG_517:g.69803_69805delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1072_1074delinsGG MANE Select ENSP00000267163.4:p.Arg358GlyfsTer9
ENST00000650461.1:c.1072_1074delinsGG ENSP00000497193.1:p.Arg358GlyfsTer9
ENST00000267163.4:c.1072_1074delinsGG ENSP00000267163.4:p.Arg358GlyfsTer9
NM_000321.2:c.1072_1074delinsGG , LRG_517t1:c.1072_1074delinsGG NP_000312.2:p.Arg358GlyfsTer9
XM_011535171.1:c.811_813delinsGG XP_011533473.1:p.Arg271GlyfsTer9
XM_011535171.2:c.811_813delinsGG XP_011533473.1:p.Arg271GlyfsTer9
XR_002957522.1:n.122-3575_122-3573delinsCC
NM_000321.3:c.1072_1074delinsGG MANE Select NP_000312.2:p.Arg358GlyfsTer9
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