Canonical Allele Identifier: CA2695218408

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364925del , CM000675.2:g.48364925del	GRCh38
NC_000013.10:g.48939061del , CM000675.1:g.48939061del	GRCh37
NC_000013.9:g.47837062del	NCBI36
NG_009009.1:g.66179del , LRG_517:g.66179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.893del MANE Select	ENSP00000267163.4:p.Pro298LeufsTer3
ENST00000650461.1:c.893del	ENSP00000497193.1:p.Pro298LeufsTer3
ENST00000267163.4:c.893del	ENSP00000267163.4:p.Pro298LeufsTer3
NM_000321.2:c.893del , LRG_517t1:c.893del	NP_000312.2:p.Pro298LeufsTer3
XM_011535171.1:c.632del	XP_011533473.1:p.Pro211LeufsTer3
XM_011535171.2:c.632del	XP_011533473.1:p.Pro211LeufsTer3
XR_002957522.1:n.174del
NM_000321.3:c.893del MANE Select	NP_000312.2:p.Pro298LeufsTer3