Canonical Allele Identifier: CA16619810
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342669_48342673del , CM000675.2:g.48342669_48342673del GRCh38
NC_000013.10:g.48916805_48916809del , CM000675.1:g.48916805_48916809del GRCh37
NC_000013.9:g.47814806_47814810del NCBI36
NG_009009.1:g.43923_43927del , LRG_517:g.43923_43927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.335_339del MANE Select ENSP00000267163.4:p.Glu112ValfsTer6
ENST00000650461.1:c.335_339del ENSP00000497193.1:p.Glu112ValfsTer6
ENST00000267163.4:c.335_339del ENSP00000267163.4:p.Glu112ValfsTer6
ENST00000467505.5:c.138-17348_138-17344del ENSP00000434702.1:n.138-17348_138-17344del
ENST00000525036.1:n.497_501del
NM_000321.2:c.335_339del , LRG_517t1:c.335_339del NP_000312.2:p.Glu112ValfsTer6
XM_011535171.1:c.74_78del XP_011533473.1:p.Glu25ValfsTer6
XM_011535171.2:c.74_78del XP_011533473.1:p.Glu25ValfsTer6
NM_000321.3:c.335_339del MANE Select NP_000312.2:p.Glu112ValfsTer6
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