Canonical Allele Identifier: CA2728043320
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138116183

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364878del , CM000675.2:g.48364878del GRCh38
NC_000013.10:g.48939014del , CM000675.1:g.48939014del GRCh37
NC_000013.9:g.47837015del NCBI36
NG_009009.1:g.66132del , LRG_517:g.66132del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-16del MANE Select ENSP00000267163.4:n.862-16del
ENST00000650461.1:c.862-16del ENSP00000497193.1:n.862-16del
ENST00000267163.4:c.862-16del ENSP00000267163.4:n.862-16del
NM_000321.2:c.862-16del , LRG_517t1:c.862-16del NP_000312.2:n.862-16del
XM_011535171.1:c.601-16del XP_011533473.1:n.601-16del
XM_011535171.2:c.601-16del XP_011533473.1:n.601-16del
NM_000321.3:c.862-16del MANE Select NP_000312.2:n.862-16del