Canonical Allele Identifier: CA2799120811

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476691del , CM000675.2:g.48476691del	GRCh38
NC_000013.10:g.49050827del , CM000675.1:g.49050827del	GRCh37
NC_000013.9:g.47948828del	NCBI36
NG_009009.1:g.177945del , LRG_517:g.177945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2521-10del MANE Select	ENSP00000267163.4:n.2521-10del
ENST00000643064.1:c.194+95248del
ENST00000650461.1:c.2521-10del	ENSP00000497193.1:n.2521-10del
ENST00000267163.4:c.2521-10del	ENSP00000267163.4:n.2521-10del
ENST00000484879.1:n.245del
ENST00000531171.5:n.124-10del
NM_000321.2:c.2521-10del , LRG_517t1:c.2521-10del	NP_000312.2:n.2521-10del
XM_011535171.1:c.2260-10del	XP_011533473.1:n.2260-10del
XM_011535171.2:c.2260-10del	XP_011533473.1:n.2260-10del
NM_000321.3:c.2521-10del MANE Select	NP_000312.2:n.2521-10del