Canonical Allele Identifier: CA2089972436
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348936_48348937delinsGC , CM000675.2:g.48348936_48348937delinsGC GRCh38
NC_000013.10:g.48923072_48923073delinsGC , CM000675.1:g.48923072_48923073delinsGC GRCh37
NC_000013.9:g.47821073_47821074delinsGC NCBI36
NG_009009.1:g.50190_50191delinsGC , LRG_517:g.50190_50191delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-20_540-19delinsGC MANE Select ENSP00000267163.4:n.540-20_540-19delinsGC
ENST00000650461.1:c.540-20_540-19delinsGC ENSP00000497193.1:n.540-20_540-19delinsGC
ENST00000267163.4:c.540-20_540-19delinsGC ENSP00000267163.4:n.540-20_540-19delinsGC
ENST00000467505.5:c.138-11081_138-11080delinsGC ENSP00000434702.1:n.138-11081_138-11080delinsGC
ENST00000525036.1:n.702-20_702-19delinsGC
NM_000321.2:c.540-20_540-19delinsGC , LRG_517t1:c.540-20_540-19delinsGC NP_000312.2:n.540-20_540-19delinsGC
XM_011535171.1:c.279-20_279-19delinsGC XP_011533473.1:n.279-20_279-19delinsGC
XM_011535171.2:c.279-20_279-19delinsGC XP_011533473.1:n.279-20_279-19delinsGC
NM_000321.3:c.540-20_540-19delinsGC MANE Select NP_000312.2:n.540-20_540-19delinsGC