Canonical Allele Identifier: CA2089950371

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304028_48304029delinsCG , CM000675.2:g.48304028_48304029delinsCG	GRCh38
NC_000013.10:g.48878164_48878165delinsCG , CM000675.1:g.48878164_48878165delinsCG	GRCh37
NC_000013.9:g.47776165_47776166delinsCG	NCBI36
NG_009009.1:g.5282_5283delinsCG , LRG_517:g.5282_5283delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.116_117delinsCG MANE Select	ENSP00000267163.4:p.Pro39=
ENST00000646097.1:c.116_117delinsCG	ENSP00000496556.1:p.Pro39=
ENST00000650461.1:c.116_117delinsCG	ENSP00000497193.1:p.Pro39=
ENST00000267163.4:c.116_117delinsCG	ENSP00000267163.4:p.Pro39=
ENST00000467505.5:c.116_117delinsCG	ENSP00000434702.1:p.Pro39=
ENST00000525036.1:n.278_279delinsCG
NM_000321.2:c.116_117delinsCG , LRG_517t1:c.116_117delinsCG	NP_000312.2:p.Pro39=
NM_000321.3:c.116_117delinsCG MANE Select	NP_000312.2:p.Pro39=