Canonical Allele Identifier: CA2089949788
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303918_48303919delinsGC , CM000675.2:g.48303918_48303919delinsGC GRCh38
NC_000013.10:g.48878054_48878055delinsGC , CM000675.1:g.48878054_48878055delinsGC GRCh37
NC_000013.9:g.47776055_47776056delinsGC NCBI36
NG_009009.1:g.5172_5173delinsGC , LRG_517:g.5172_5173delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.6_7delinsGC MANE Select ENSP00000267163.4:p.Pro2=
ENST00000646097.1:c.6_7delinsGC ENSP00000496556.1:p.Pro2=
ENST00000650461.1:c.6_7delinsGC ENSP00000497193.1:p.Pro2=
ENST00000267163.4:c.6_7delinsGC ENSP00000267163.4:p.Pro2=
ENST00000467505.5:c.6_7delinsGC ENSP00000434702.1:p.Pro2=
ENST00000525036.1:n.168_169delinsGC
NM_000321.2:c.6_7delinsGC , LRG_517t1:c.6_7delinsGC NP_000312.2:p.Pro2=
NM_000321.3:c.6_7delinsGC MANE Select NP_000312.2:p.Pro2=