Canonical Allele Identifier: CA2695218363

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368556del , CM000675.2:g.48368556del	GRCh38
NC_000013.10:g.48942692del , CM000675.1:g.48942692del	GRCh37
NC_000013.9:g.47840693del	NCBI36
NG_009009.1:g.69810del , LRG_517:g.69810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1079del MANE Select	ENSP00000267163.4:p.Ser360IlefsTer7
ENST00000650461.1:c.1079del	ENSP00000497193.1:p.Ser360IlefsTer7
ENST00000267163.4:c.1079del	ENSP00000267163.4:p.Ser360IlefsTer7
NM_000321.2:c.1079del , LRG_517t1:c.1079del	NP_000312.2:p.Ser360IlefsTer7
XM_011535171.1:c.818del	XP_011533473.1:p.Ser273IlefsTer7
XM_011535171.2:c.818del	XP_011533473.1:p.Ser273IlefsTer7
XR_002957522.1:n.122-3580del
NM_000321.3:c.1079del MANE Select	NP_000312.2:p.Ser360IlefsTer7