Canonical Allele Identifier: CA2796591355
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346268_76346269insACG , CM000674.2:g.76346268_76346269insACG GRCh38
NC_000012.11:g.76740048_76740049insACG , CM000674.1:g.76740048_76740049insACG GRCh37
NC_000012.10:g.75264179_75264180insACG NCBI36
NG_016357.1:g.7174_7175insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1716_1717insCGT MANE Select ENSP00000497413.1:p.Ser572_Met573insArg
ENST00000393262.3:c.1716_1717insCGT ENSP00000376946.3:p.Ser572_Met573insArg
NM_024685.3:c.1716_1717insCGT NP_078961.3:p.Ser572_Met573insArg
NM_024685.4:c.1716_1717insCGT MANE Select NP_078961.3:p.Ser572_Met573insArg
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