Canonical Allele Identifier: CA645571620

Gene: RB1

Linked Data

• COSMIC: COSM5731162

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459816_48459817del , CM000675.2:g.48459816_48459817del	GRCh38
NC_000013.10:g.49033952_49033953del , CM000675.1:g.49033952_49033953del	GRCh37
NC_000013.9:g.47931953_47931954del	NCBI36
NG_009009.1:g.161070_161071del , LRG_517:g.161070_161071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2089_2090del MANE Select	ENSP00000267163.4:p.Asp697GlnfsTer23
ENST00000643064.1:c.194+78373_194+78374del
ENST00000650461.1:c.2089_2090del	ENSP00000497193.1:p.Asp697GlnfsTer23
ENST00000267163.4:c.2089_2090del	ENSP00000267163.4:p.Asp697GlnfsTer23
NM_000321.2:c.2089_2090del , LRG_517t1:c.2089_2090del	NP_000312.2:p.Asp697GlnfsTer23
XM_011535171.1:c.1828_1829del	XP_011533473.1:p.Asp610GlnfsTer23
XM_011535171.2:c.1828_1829del	XP_011533473.1:p.Asp610GlnfsTer23
NM_000321.3:c.2089_2090del MANE Select	NP_000312.2:p.Asp697GlnfsTer23