Canonical Allele Identifier: CA2047353235
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346275_76346277delinsCTT , CM000674.2:g.76346275_76346277delinsCTT GRCh38
NC_000012.11:g.76740055_76740057delinsCTT , CM000674.1:g.76740055_76740057delinsCTT GRCh37
NC_000012.10:g.75264186_75264188delinsCTT NCBI36
NG_016357.1:g.7166_7168delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1708_1710delinsAAG MANE Select ENSP00000497413.1:p.Lys570=
ENST00000393262.3:c.1708_1710delinsAAG ENSP00000376946.3:p.Lys570=
NM_024685.3:c.1708_1710delinsAAG NP_078961.3:p.Lys570=
NM_024685.4:c.1708_1710delinsAAG MANE Select NP_078961.3:p.Lys570=
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