Canonical Allele Identifier: CA2695218486
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380239_48380246delinsA , CM000675.2:g.48380239_48380246delinsA GRCh38
NC_000013.10:g.48954375_48954382delinsA , CM000675.1:g.48954375_48954382delinsA GRCh37
NC_000013.9:g.47852376_47852383delinsA NCBI36
NG_009009.1:g.81493_81500delinsA , LRG_517:g.81493_81500delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1496_1498+5delinsA
ENST00000650461.1:c.1496_1498+5delinsA
ENST00000267163.4:c.1496_1498+5delinsA
NM_000321.2:c.1496_1498+5delinsA , LRG_517t1:c.1496_1498+5delinsA
XM_011535171.1:c.1235_1237+5delinsA
XM_011535171.2:c.1235_1237+5delinsA
NM_000321.3:c.1496_1498+5delinsA