Canonical Allele Identifier: CA2695218481
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380233_48380234del , CM000675.2:g.48380233_48380234del GRCh38
NC_000013.10:g.48954369_48954370del , CM000675.1:g.48954369_48954370del GRCh37
NC_000013.9:g.47852370_47852371del NCBI36
NG_009009.1:g.81487_81488del , LRG_517:g.81487_81488del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1490_1491del MANE Select ENSP00000267163.4:p.Thr497IlefsTer2
ENST00000650461.1:c.1490_1491del ENSP00000497193.1:p.Thr497IlefsTer2
ENST00000267163.4:c.1490_1491del ENSP00000267163.4:p.Thr497IlefsTer2
NM_000321.2:c.1490_1491del , LRG_517t1:c.1490_1491del NP_000312.2:p.Thr497IlefsTer2
XM_011535171.1:c.1229_1230del XP_011533473.1:p.Thr410IlefsTer2
XM_011535171.2:c.1229_1230del XP_011533473.1:p.Thr410IlefsTer2
NM_000321.3:c.1490_1491del MANE Select NP_000312.2:p.Thr497IlefsTer2
Search 100 bp 5'
Search 100 bp 3'