Canonical Allele Identifier: CA2695218348
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48362863dup , CM000675.2:g.48362863dup GRCh38
NC_000013.10:g.48936999dup , CM000675.1:g.48936999dup GRCh37
NC_000013.9:g.47835000dup NCBI36
NG_009009.1:g.64117dup , LRG_517:g.64117dup

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.767dup MANE Select ENSP00000267163.4:p.Gln257SerfsTer14
ENST00000650461.1:c.767dup ENSP00000497193.1:p.Gln257SerfsTer14
ENST00000267163.4:c.767dup ENSP00000267163.4:p.Gln257SerfsTer14
ENST00000467505.5:c.*135dup ENSP00000434702.1:n.*135dup
NM_000321.2:c.767dup , LRG_517t1:c.767dup NP_000312.2:p.Gln257SerfsTer14
XM_011535171.1:c.506dup XP_011533473.1:p.Gln170SerfsTer14
XM_011535171.2:c.506dup XP_011533473.1:p.Gln170SerfsTer14
NM_000321.3:c.767dup MANE Select NP_000312.2:p.Gln257SerfsTer14
Search 100 bp 5'
Search 100 bp 3'