Canonical Allele Identifier: CA2622981266
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48380034-TTTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380035_48380037del , CM000675.2:g.48380035_48380037del GRCh38
NC_000013.10:g.48954171_48954173del , CM000675.1:g.48954171_48954173del GRCh37
NC_000013.9:g.47852172_47852174del NCBI36
NG_009009.1:g.81289_81291del , LRG_517:g.81289_81291del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-18_1390-16del MANE Select ENSP00000267163.4:n.1390-18_1390-16del
ENST00000650461.1:c.1390-18_1390-16del ENSP00000497193.1:n.1390-18_1390-16del
ENST00000267163.4:c.1390-18_1390-16del ENSP00000267163.4:n.1390-18_1390-16del
NM_000321.2:c.1390-18_1390-16del , LRG_517t1:c.1390-18_1390-16del NP_000312.2:n.1390-18_1390-16del
XM_011535171.1:c.1129-18_1129-16del XP_011533473.1:n.1129-18_1129-16del
XM_011535171.2:c.1129-18_1129-16del XP_011533473.1:n.1129-18_1129-16del
NM_000321.3:c.1390-18_1390-16del MANE Select NP_000312.2:n.1390-18_1390-16del
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