Canonical Allele Identifier: CA2047353910
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951773909
gnomAD v4: 12-76347723-TAATA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347727_76347730del , CM000674.2:g.76347727_76347730del GRCh38
NC_000012.11:g.76741507_76741510del , CM000674.1:g.76741507_76741510del GRCh37
NC_000012.10:g.75265638_75265641del NCBI36
NG_016357.1:g.5716_5719del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.258_261del MANE Select ENSP00000497413.1:p.Phe86LeufsTer22
ENST00000393262.3:c.258_261del ENSP00000376946.3:p.Phe86LeufsTer22
NM_024685.3:c.258_261del NP_078961.3:p.Phe86LeufsTer22
NM_024685.4:c.258_261del MANE Select NP_078961.3:p.Phe86LeufsTer22
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Search 100 bp 3'