Canonical Allele Identifier: CA2695218629

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459708del , CM000675.2:g.48459708del	GRCh38
NC_000013.10:g.49033844del , CM000675.1:g.49033844del	GRCh37
NC_000013.9:g.47931845del	NCBI36
NG_009009.1:g.160962del , LRG_517:g.160962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1981del MANE Select	ENSP00000267163.4:p.Arg661GlyfsTer2
ENST00000643064.1:c.194+78265del
ENST00000650461.1:c.1981del	ENSP00000497193.1:p.Arg661GlyfsTer2
ENST00000267163.4:c.1981del	ENSP00000267163.4:p.Arg661GlyfsTer2
NM_000321.2:c.1981del , LRG_517t1:c.1981del	NP_000312.2:p.Arg661GlyfsTer2
XM_011535171.1:c.1720del	XP_011533473.1:p.Arg574GlyfsTer2
XM_011535171.2:c.1720del	XP_011533473.1:p.Arg574GlyfsTer2
NM_000321.3:c.1981del MANE Select	NP_000312.2:p.Arg661GlyfsTer2