Canonical Allele Identifier: CA2047353911
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347726_76347727delinsTA , CM000674.2:g.76347726_76347727delinsTA GRCh38
NC_000012.11:g.76741506_76741507delinsTA , CM000674.1:g.76741506_76741507delinsTA GRCh37
NC_000012.10:g.75265637_75265638delinsTA NCBI36
NG_016357.1:g.5716_5717delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.258_259delinsTA MANE Select ENSP00000497413.1:p.Phe86=
ENST00000393262.3:c.258_259delinsTA ENSP00000376946.3:p.Phe86=
NM_024685.3:c.258_259delinsTA NP_078961.3:p.Phe86=
NM_024685.4:c.258_259delinsTA MANE Select NP_078961.3:p.Phe86=
Search 100 bp 5'
Search 100 bp 3'