Canonical Allele Identifier: CA2695218479

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380229_48380232delinsTAAT , CM000675.2:g.48380229_48380232delinsTAAT	GRCh38
NC_000013.10:g.48954365_48954368delinsTAAT , CM000675.1:g.48954365_48954368delinsTAAT	GRCh37
NC_000013.9:g.47852366_47852369delinsTAAT	NCBI36
NG_009009.1:g.81483_81486delinsTAAT , LRG_517:g.81483_81486delinsTAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1486_1489delinsTAAT MANE Select	ENSP00000267163.4:p.Ala496Ter
ENST00000650461.1:c.1486_1489delinsTAAT	ENSP00000497193.1:p.Ala496Ter
ENST00000267163.4:c.1486_1489delinsTAAT	ENSP00000267163.4:p.Ala496Ter
NM_000321.2:c.1486_1489delinsTAAT , LRG_517t1:c.1486_1489delinsTAAT	NP_000312.2:p.Ala496Ter
XM_011535171.1:c.1225_1228delinsTAAT	XP_011533473.1:p.Ala409Ter
XM_011535171.2:c.1225_1228delinsTAAT	XP_011533473.1:p.Ala409Ter
NM_000321.3:c.1486_1489delinsTAAT MANE Select	NP_000312.2:p.Ala496Ter