Canonical Allele Identifier: CA2695218636

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459749del , CM000675.2:g.48459749del	GRCh38
NC_000013.10:g.49033885del , CM000675.1:g.49033885del	GRCh37
NC_000013.9:g.47931886del	NCBI36
NG_009009.1:g.161003del , LRG_517:g.161003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2022del MANE Select	ENSP00000267163.4:p.Glu675AsnfsTer2
ENST00000643064.1:c.194+78306del
ENST00000650461.1:c.2022del	ENSP00000497193.1:p.Glu675AsnfsTer2
ENST00000267163.4:c.2022del	ENSP00000267163.4:p.Glu675AsnfsTer2
NM_000321.2:c.2022del , LRG_517t1:c.2022del	NP_000312.2:p.Glu675AsnfsTer2
XM_011535171.1:c.1761del	XP_011533473.1:p.Glu588AsnfsTer2
XM_011535171.2:c.1761del	XP_011533473.1:p.Glu588AsnfsTer2
NM_000321.3:c.2022del MANE Select	NP_000312.2:p.Glu675AsnfsTer2