Canonical Allele Identifier: CA658798146
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527913
ClinVar RCV Id: RCV000632942
dbSNP Id: rs1555286695

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381381_48381388del , CM000675.2:g.48381381_48381388del GRCh38
NC_000013.10:g.48955517_48955524del , CM000675.1:g.48955517_48955524del GRCh37
NC_000013.9:g.47853518_47853525del NCBI36
NG_009009.1:g.82635_82642del , LRG_517:g.82635_82642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1633_1640del MANE Select ENSP00000267163.4:p.Glu545LysfsTer7
ENST00000643064.1:c.132_139del
ENST00000650461.1:c.1633_1640del ENSP00000497193.1:p.Glu545LysfsTer7
ENST00000267163.4:c.1633_1640del ENSP00000267163.4:p.Glu545LysfsTer7
NM_000321.2:c.1633_1640del , LRG_517t1:c.1633_1640del NP_000312.2:p.Glu545LysfsTer7
XM_011535171.1:c.1372_1379del XP_011533473.1:p.Glu458LysfsTer7
XM_011535171.2:c.1372_1379del XP_011533473.1:p.Glu458LysfsTer7
NM_000321.3:c.1633_1640del MANE Select NP_000312.2:p.Glu545LysfsTer7