Canonical Allele Identifier: CA2047353908
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347723_76347728delinsTAATAA , CM000674.2:g.76347723_76347728delinsTAATAA GRCh38
NC_000012.11:g.76741503_76741508delinsTAATAA , CM000674.1:g.76741503_76741508delinsTAATAA GRCh37
NC_000012.10:g.75265634_75265639delinsTAATAA NCBI36
NG_016357.1:g.5715_5720delinsTTATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.257_262delinsTTATTA MANE Select ENSP00000497413.1:p.Phe86=
ENST00000393262.3:c.257_262delinsTTATTA ENSP00000376946.3:p.Phe86=
NM_024685.3:c.257_262delinsTTATTA NP_078961.3:p.Phe86=
NM_024685.4:c.257_262delinsTTATTA MANE Select NP_078961.3:p.Phe86=
Search 100 bp 5'
Search 100 bp 3'