Canonical Allele Identifier: CA2695199111
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679964
ClinVar RCV Id: RCV003465027
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346332_76346333del , CM000674.2:g.76346332_76346333del GRCh38
NC_000012.11:g.76740112_76740113del , CM000674.1:g.76740112_76740113del GRCh37
NC_000012.10:g.75264243_75264244del NCBI36
NG_016357.1:g.7112_7113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1654_1655del MANE Select ENSP00000497413.1:p.Gly552LysfsTer2
ENST00000393262.3:c.1654_1655del ENSP00000376946.3:p.Gly552LysfsTer2
NM_024685.3:c.1654_1655del NP_078961.3:p.Gly552LysfsTer2
NM_024685.4:c.1654_1655del MANE Select NP_078961.3:p.Gly552LysfsTer2
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Search 100 bp 3'