Canonical Allele Identifier: CA2695218416
Gene: RB1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364963del , CM000675.2:g.48364963del GRCh38
NC_000013.10:g.48939099del , CM000675.1:g.48939099del GRCh37
NC_000013.9:g.47837100del NCBI36
NG_009009.1:g.66217del , LRG_517:g.66217del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.931del MANE Select ENSP00000267163.4:p.Leu311PhefsTer21
ENST00000650461.1:c.931del ENSP00000497193.1:p.Leu311PhefsTer21
ENST00000267163.4:c.931del ENSP00000267163.4:p.Leu311PhefsTer21
NM_000321.2:c.931del , LRG_517t1:c.931del NP_000312.2:p.Leu311PhefsTer21
XM_011535171.1:c.670del XP_011533473.1:p.Leu224PhefsTer21
XM_011535171.2:c.670del XP_011533473.1:p.Leu224PhefsTer21
XR_002957522.1:n.135del
NM_000321.3:c.931del MANE Select NP_000312.2:p.Leu311PhefsTer21
Search 100 bp 5'
Search 100 bp 3'