Canonical Allele Identifier: CA2695218594

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476723del , CM000675.2:g.48476723del	GRCh38
NC_000013.10:g.49050859del , CM000675.1:g.49050859del	GRCh37
NC_000013.9:g.47948860del	NCBI36
NG_009009.1:g.177977del , LRG_517:g.177977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2543del MANE Select	ENSP00000267163.4:p.Ile848LysfsTer25
ENST00000643064.1:c.194+95280del
ENST00000650461.1:c.2543del	ENSP00000497193.1:p.Ile848LysfsTer25
ENST00000267163.4:c.2543del	ENSP00000267163.4:p.Ile848LysfsTer25
ENST00000484879.1:n.277del
ENST00000531171.5:n.146del
NM_000321.2:c.2543del , LRG_517t1:c.2543del	NP_000312.2:p.Ile848LysfsTer25
XM_011535171.1:c.2282del	XP_011533473.1:p.Ile761LysfsTer25
XM_011535171.2:c.2282del	XP_011533473.1:p.Ile761LysfsTer25
NM_000321.3:c.2543del MANE Select	NP_000312.2:p.Ile848LysfsTer25