Canonical Allele Identifier: CA2831039888

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476718del , CM000675.2:g.48476718del	GRCh38
NC_000013.10:g.49050854del , CM000675.1:g.49050854del	GRCh37
NC_000013.9:g.47948855del	NCBI36
NG_009009.1:g.177972del , LRG_517:g.177972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2538del MANE Select	ENSP00000267163.4:p.Ile848Ter
ENST00000643064.1:c.194+95275del
ENST00000650461.1:c.2538del	ENSP00000497193.1:p.Ile848Ter
ENST00000267163.4:c.2538del	ENSP00000267163.4:p.Ile848Ter
ENST00000484879.1:n.272del
ENST00000531171.5:n.141del
NM_000321.2:c.2538del , LRG_517t1:c.2538del	NP_000312.2:p.Ile848Ter
XM_011535171.1:c.2277del	XP_011533473.1:p.Ile761Ter
XM_011535171.2:c.2277del	XP_011533473.1:p.Ile761Ter
NM_000321.3:c.2538del MANE Select	NP_000312.2:p.Ile848Ter