Canonical Allele Identifier: CA645571615

Gene: RB1

Linked Data

• COSMIC: COSM5967132

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459721_48459787del , CM000675.2:g.48459721_48459787del	GRCh38
NC_000013.10:g.49033857_49033923del , CM000675.1:g.49033857_49033923del	GRCh37
NC_000013.9:g.47931858_47931924del	NCBI36
NG_009009.1:g.160975_161041del , LRG_517:g.160975_161041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1994_2060del MANE Select	ENSP00000267163.4:p.Leu665ProfsTer9
ENST00000643064.1:c.194+78278_194+78344del
ENST00000650461.1:c.1994_2060del	ENSP00000497193.1:p.Leu665ProfsTer9
ENST00000267163.4:c.1994_2060del	ENSP00000267163.4:p.Leu665ProfsTer9
NM_000321.2:c.1994_2060del , LRG_517t1:c.1994_2060del	NP_000312.2:p.Leu665ProfsTer9
XM_011535171.1:c.1733_1799del	XP_011533473.1:p.Leu578ProfsTer9
XM_011535171.2:c.1733_1799del	XP_011533473.1:p.Leu578ProfsTer9
NM_000321.3:c.1994_2060del MANE Select	NP_000312.2:p.Leu665ProfsTer9