Canonical Allele Identifier: CA698667487
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1390178203
MyVariant Identifiers: chr13:g.48938904del (hg19) chr13:g.48364768del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364768del , CM000675.2:g.48364768del GRCh38
NC_000013.10:g.48938904del , CM000675.1:g.48938904del GRCh37
NC_000013.9:g.47836905del NCBI36
NG_009009.1:g.66022del , LRG_517:g.66022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.862-126del MANE Select ENSP00000267163.4:n.862-126del
ENST00000650461.1:c.862-126del ENSP00000497193.1:n.862-126del
ENST00000267163.4:c.862-126del ENSP00000267163.4:n.862-126del
NM_000321.2:c.862-126del , LRG_517t1:c.862-126del NP_000312.2:n.862-126del
XM_011535171.1:c.601-126del XP_011533473.1:n.601-126del
XM_011535171.2:c.601-126del XP_011533473.1:n.601-126del
NM_000321.3:c.862-126del MANE Select NP_000312.2:n.862-126del
Search 100 bp 5'
Search 100 bp 3'