Canonical Allele Identifier: CA2567388738
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348685_48348686insC , CM000675.2:g.48348685_48348686insC GRCh38
NC_000013.10:g.48922821_48922822insC , CM000675.1:g.48922821_48922822insC GRCh37
NC_000013.9:g.47820822_47820823insC NCBI36
NG_009009.1:g.49939_49940insC , LRG_517:g.49939_49940insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-271_540-270insC MANE Select ENSP00000267163.4:n.540-271_540-270insC
ENST00000650461.1:c.540-271_540-270insC ENSP00000497193.1:n.540-271_540-270insC
ENST00000267163.4:c.540-271_540-270insC ENSP00000267163.4:n.540-271_540-270insC
ENST00000467505.5:c.138-11332_138-11331insC ENSP00000434702.1:n.138-11332_138-11331insC
ENST00000525036.1:n.702-271_702-270insC
NM_000321.2:c.540-271_540-270insC , LRG_517t1:c.540-271_540-270insC NP_000312.2:n.540-271_540-270insC
XM_011535171.1:c.279-271_279-270insC XP_011533473.1:n.279-271_279-270insC
XM_011535171.2:c.279-271_279-270insC XP_011533473.1:n.279-271_279-270insC
NM_000321.3:c.540-271_540-270insC MANE Select NP_000312.2:n.540-271_540-270insC