Canonical Allele Identifier: CA955794966
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v3: 13-48380036-TAAA-T
gnomAD v4: 13-48380036-TAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380037_48380039del , CM000675.2:g.48380037_48380039del GRCh38
NC_000013.10:g.48954173_48954175del , CM000675.1:g.48954173_48954175del GRCh37
NC_000013.9:g.47852174_47852176del NCBI36
NG_009009.1:g.81291_81293del , LRG_517:g.81291_81293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-16_1390-14del MANE Select ENSP00000267163.4:n.1390-16_1390-14del
ENST00000650461.1:c.1390-16_1390-14del ENSP00000497193.1:n.1390-16_1390-14del
ENST00000267163.4:c.1390-16_1390-14del ENSP00000267163.4:n.1390-16_1390-14del
NM_000321.2:c.1390-16_1390-14del , LRG_517t1:c.1390-16_1390-14del NP_000312.2:n.1390-16_1390-14del
XM_011535171.1:c.1129-16_1129-14del XP_011533473.1:n.1129-16_1129-14del
XM_011535171.2:c.1129-16_1129-14del XP_011533473.1:n.1129-16_1129-14del
NM_000321.3:c.1390-16_1390-14del MANE Select NP_000312.2:n.1390-16_1390-14del
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