Canonical Allele Identifier: CA2575413475
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380020_48380023del , CM000675.2:g.48380020_48380023del GRCh38
NC_000013.10:g.48954156_48954159del , CM000675.1:g.48954156_48954159del GRCh37
NC_000013.9:g.47852157_47852160del NCBI36
NG_009009.1:g.81274_81277del , LRG_517:g.81274_81277del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1390-33_1390-30del MANE Select ENSP00000267163.4:n.1390-33_1390-30del
ENST00000650461.1:c.1390-33_1390-30del ENSP00000497193.1:n.1390-33_1390-30del
ENST00000267163.4:c.1390-33_1390-30del ENSP00000267163.4:n.1390-33_1390-30del
NM_000321.2:c.1390-33_1390-30del , LRG_517t1:c.1390-33_1390-30del NP_000312.2:n.1390-33_1390-30del
XM_011535171.1:c.1129-33_1129-30del XP_011533473.1:n.1129-33_1129-30del
XM_011535171.2:c.1129-33_1129-30del XP_011533473.1:n.1129-33_1129-30del
NM_000321.3:c.1390-33_1390-30del MANE Select NP_000312.2:n.1390-33_1390-30del