Canonical Allele Identifier: CA2575413743
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464931dup , CM000675.2:g.48464931dup GRCh38
NC_000013.10:g.49039067dup , CM000675.1:g.49039067dup GRCh37
NC_000013.9:g.47937068dup NCBI36
NG_009009.1:g.166185dup , LRG_517:g.166185dup

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-67dup MANE Select ENSP00000267163.4:n.2212-67dup
ENST00000643064.1:c.194+83488dup
ENST00000650461.1:c.2212-67dup ENSP00000497193.1:n.2212-67dup
ENST00000267163.4:c.2212-67dup ENSP00000267163.4:n.2212-67dup
NM_000321.2:c.2212-67dup , LRG_517t1:c.2212-67dup NP_000312.2:n.2212-67dup
XM_011535171.1:c.1951-67dup XP_011533473.1:n.1951-67dup
XM_011535171.2:c.1951-67dup XP_011533473.1:n.1951-67dup
NM_000321.3:c.2212-67dup MANE Select NP_000312.2:n.2212-67dup
Search 100 bp 5'
Search 100 bp 3'