Canonical Allele Identifier: CA2047353258
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346316_76346321delinsTTTCTA , CM000674.2:g.76346316_76346321delinsTTTCTA GRCh38
NC_000012.11:g.76740096_76740101delinsTTTCTA , CM000674.1:g.76740096_76740101delinsTTTCTA GRCh37
NC_000012.10:g.75264227_75264232delinsTTTCTA NCBI36
NG_016357.1:g.7122_7127delinsTAGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1664_1669delinsTAGAAA MANE Select ENSP00000497413.1:p.Ile555=
ENST00000393262.3:c.1664_1669delinsTAGAAA ENSP00000376946.3:p.Ile555=
NM_024685.3:c.1664_1669delinsTAGAAA NP_078961.3:p.Ile555=
NM_024685.4:c.1664_1669delinsTAGAAA MANE Select NP_078961.3:p.Ile555=
Search 100 bp 5'
Search 100 bp 3'