Canonical Allele Identifier: CA2831039825
Gene: RB1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303932_48303933insC , CM000675.2:g.48303932_48303933insC GRCh38
NC_000013.10:g.48878068_48878069insC , CM000675.1:g.48878068_48878069insC GRCh37
NC_000013.9:g.47776069_47776070insC NCBI36
NG_009009.1:g.5186_5187insC , LRG_517:g.5186_5187insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.20_21insC MANE Select ENSP00000267163.4:p.Thr9AsnfsTer22
ENST00000646097.1:c.20_21insC ENSP00000496556.1:p.Thr9AsnfsTer22
ENST00000650461.1:c.20_21insC ENSP00000497193.1:p.Thr9AsnfsTer22
ENST00000267163.4:c.20_21insC ENSP00000267163.4:p.Thr9AsnfsTer22
ENST00000467505.5:c.20_21insC ENSP00000434702.1:p.Thr9AsnfsTer22
ENST00000525036.1:n.182_183insC
NM_000321.2:c.20_21insC , LRG_517t1:c.20_21insC NP_000312.2:p.Thr9AsnfsTer22
NM_000321.3:c.20_21insC MANE Select NP_000312.2:p.Thr9AsnfsTer22
Search 100 bp 5'
Search 100 bp 3'