Canonical Allele Identifier: CA2695218613

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459692del , CM000675.2:g.48459692del	GRCh38
NC_000013.10:g.49033828del , CM000675.1:g.49033828del	GRCh37
NC_000013.9:g.47931829del	NCBI36
NG_009009.1:g.160946del , LRG_517:g.160946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1965del MANE Select	ENSP00000267163.4:p.Arg656GlyfsTer2
ENST00000643064.1:c.194+78249del
ENST00000650461.1:c.1965del	ENSP00000497193.1:p.Arg656GlyfsTer2
ENST00000267163.4:c.1965del	ENSP00000267163.4:p.Arg656GlyfsTer2
NM_000321.2:c.1965del , LRG_517t1:c.1965del	NP_000312.2:p.Arg656GlyfsTer2
XM_011535171.1:c.1704del	XP_011533473.1:p.Arg569GlyfsTer2
XM_011535171.2:c.1704del	XP_011533473.1:p.Arg569GlyfsTer2
NM_000321.3:c.1965del MANE Select	NP_000312.2:p.Arg656GlyfsTer2