Canonical Allele Identifier: CA2047353063
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345864_76345866delinsAAC , CM000674.2:g.76345864_76345866delinsAAC GRCh38
NC_000012.11:g.76739644_76739646delinsAAC , CM000674.1:g.76739644_76739646delinsAAC GRCh37
NC_000012.10:g.75263775_75263777delinsAAC NCBI36
NG_016357.1:g.7577_7579delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2119_2121delinsGTT MANE Select ENSP00000497413.1:p.Val707=
ENST00000393262.3:c.2119_2121delinsGTT ENSP00000376946.3:p.Val707=
NM_024685.3:c.2119_2121delinsGTT NP_078961.3:p.Val707=
NM_024685.4:c.2119_2121delinsGTT MANE Select NP_078961.3:p.Val707=
Search 100 bp 5'
Search 100 bp 3'