Canonical Allele Identifier: CA2089949949
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303946_48303947delinsAC , CM000675.2:g.48303946_48303947delinsAC GRCh38
NC_000013.10:g.48878082_48878083delinsAC , CM000675.1:g.48878082_48878083delinsAC GRCh37
NC_000013.9:g.47776083_47776084delinsAC NCBI36
NG_009009.1:g.5200_5201delinsAC , LRG_517:g.5200_5201delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.34_35delinsAC MANE Select ENSP00000267163.4:p.Thr12=
ENST00000646097.1:c.34_35delinsAC ENSP00000496556.1:p.Thr12=
ENST00000650461.1:c.34_35delinsAC ENSP00000497193.1:p.Thr12=
ENST00000267163.4:c.34_35delinsAC ENSP00000267163.4:p.Thr12=
ENST00000467505.5:c.34_35delinsAC ENSP00000434702.1:p.Thr12=
ENST00000525036.1:n.196_197delinsAC
NM_000321.2:c.34_35delinsAC , LRG_517t1:c.34_35delinsAC NP_000312.2:p.Thr12=
NM_000321.3:c.34_35delinsAC MANE Select NP_000312.2:p.Thr12=