Canonical Allele Identifier: CA2047353255
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346309_76346312delinsTAAG , CM000674.2:g.76346309_76346312delinsTAAG GRCh38
NC_000012.11:g.76740089_76740092delinsTAAG , CM000674.1:g.76740089_76740092delinsTAAG GRCh37
NC_000012.10:g.75264220_75264223delinsTAAG NCBI36
NG_016357.1:g.7131_7134delinsCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1673_1676delinsCTTA MANE Select ENSP00000497413.1:p.Ser558=
ENST00000393262.3:c.1673_1676delinsCTTA ENSP00000376946.3:p.Ser558=
NM_024685.3:c.1673_1676delinsCTTA NP_078961.3:p.Ser558=
NM_024685.4:c.1673_1676delinsCTTA MANE Select NP_078961.3:p.Ser558=
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