Canonical Allele Identifier: CA2506011855
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348675dup , CM000675.2:g.48348675dup GRCh38
NC_000013.10:g.48922811dup , CM000675.1:g.48922811dup GRCh37
NC_000013.9:g.47820812dup NCBI36
NG_009009.1:g.49929dup , LRG_517:g.49929dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-281dup MANE Select ENSP00000267163.4:n.540-281dup
ENST00000650461.1:c.540-281dup ENSP00000497193.1:n.540-281dup
ENST00000267163.4:c.540-281dup ENSP00000267163.4:n.540-281dup
ENST00000467505.5:c.138-11342dup ENSP00000434702.1:n.138-11342dup
ENST00000525036.1:n.702-281dup
NM_000321.2:c.540-281dup , LRG_517t1:c.540-281dup NP_000312.2:n.540-281dup
XM_011535171.1:c.279-281dup XP_011533473.1:n.279-281dup
XM_011535171.2:c.279-281dup XP_011533473.1:n.279-281dup
NM_000321.3:c.540-281dup MANE Select NP_000312.2:n.540-281dup