Canonical Allele Identifier: CA483559021
Gene: RB1 HGNC NCBI

Linked Data

COSMIC: COSM1629129 COSM1629130
MyVariant Identifiers: chr13:g.49033899del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459763del , CM000675.2:g.48459763del GRCh38
NC_000013.10:g.49033899del , CM000675.1:g.49033899del GRCh37
NC_000013.9:g.47931900del NCBI36
NG_009009.1:g.161017del , LRG_517:g.161017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2036del MANE Select ENSP00000267163.4:p.Ile679ThrfsTer17
ENST00000643064.1:c.194+78320del
ENST00000650461.1:c.2036del ENSP00000497193.1:p.Ile679ThrfsTer17
ENST00000267163.4:c.2036del ENSP00000267163.4:p.Ile679ThrfsTer17
NM_000321.2:c.2036del , LRG_517t1:c.2036del NP_000312.2:p.Ile679ThrfsTer17
XM_011535171.1:c.1775del XP_011533473.1:p.Ile592ThrfsTer17
XM_011535171.2:c.1775del XP_011533473.1:p.Ile592ThrfsTer17
NM_000321.3:c.2036del MANE Select NP_000312.2:p.Ile679ThrfsTer17
Search 100 bp 5'
Search 100 bp 3'