Canonical Allele Identifier: CA2580087545
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1933789
ClinVar RCV Id: RCV002627223
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364876_48364877del , CM000675.2:g.48364876_48364877del GRCh38
NC_000013.10:g.48939012_48939013del , CM000675.1:g.48939012_48939013del GRCh37
NC_000013.9:g.47837013_47837014del NCBI36
NG_009009.1:g.66130_66131del , LRG_517:g.66130_66131del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-18_862-17del MANE Select ENSP00000267163.4:n.862-18_862-17del
ENST00000650461.1:c.862-18_862-17del ENSP00000497193.1:n.862-18_862-17del
ENST00000267163.4:c.862-18_862-17del ENSP00000267163.4:n.862-18_862-17del
NM_000321.2:c.862-18_862-17del , LRG_517t1:c.862-18_862-17del NP_000312.2:n.862-18_862-17del
XM_011535171.1:c.601-18_601-17del XP_011533473.1:n.601-18_601-17del
XM_011535171.2:c.601-18_601-17del XP_011533473.1:n.601-18_601-17del
NM_000321.3:c.862-18_862-17del MANE Select NP_000312.2:n.862-18_862-17del
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