Canonical Allele Identifier: CA2695218344

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349009_48349015del , CM000675.2:g.48349009_48349015del	GRCh38
NC_000013.10:g.48923145_48923151del , CM000675.1:g.48923145_48923151del	GRCh37
NC_000013.9:g.47821146_47821152del	NCBI36
NG_009009.1:g.50263_50269del , LRG_517:g.50263_50269del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.593_599del MANE Select	ENSP00000267163.4:p.Phe198Ter
ENST00000650461.1:c.593_599del	ENSP00000497193.1:p.Phe198Ter
ENST00000267163.4:c.593_599del	ENSP00000267163.4:p.Phe198Ter
ENST00000467505.5:c.138-11008_138-11002del	ENSP00000434702.1:n.138-11008_138-11002de...
ENST00000525036.1:n.755_761del
NM_000321.2:c.593_599del , LRG_517t1:c.593_599del	NP_000312.2:p.Phe198Ter
XM_011535171.1:c.332_338del	XP_011533473.1:p.Phe111Ter
XM_011535171.2:c.332_338del	XP_011533473.1:p.Phe111Ter
NM_000321.3:c.593_599del MANE Select	NP_000312.2:p.Phe198Ter