Canonical Allele Identifier: CA2695218350
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48349018del , CM000675.2:g.48349018del GRCh38
NC_000013.10:g.48923154del , CM000675.1:g.48923154del GRCh37
NC_000013.9:g.47821155del NCBI36
NG_009009.1:g.50272del , LRG_517:g.50272del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.602del MANE Select ENSP00000267163.4:p.Ala201ValfsTer13
ENST00000650461.1:c.602del ENSP00000497193.1:p.Ala201ValfsTer13
ENST00000267163.4:c.602del ENSP00000267163.4:p.Ala201ValfsTer13
ENST00000467505.5:c.138-10999del ENSP00000434702.1:n.138-10999del
ENST00000525036.1:n.764del
NM_000321.2:c.602del , LRG_517t1:c.602del NP_000312.2:p.Ala201ValfsTer13
XM_011535171.1:c.341del XP_011533473.1:p.Ala114ValfsTer13
XM_011535171.2:c.341del XP_011533473.1:p.Ala114ValfsTer13
NM_000321.3:c.602del MANE Select NP_000312.2:p.Ala201ValfsTer13
Search 100 bp 5'
Search 100 bp 3'