Canonical Allele Identifier: CA2047353057
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345858_76345859delinsTC , CM000674.2:g.76345858_76345859delinsTC GRCh38
NC_000012.11:g.76739638_76739639delinsTC , CM000674.1:g.76739638_76739639delinsTC GRCh37
NC_000012.10:g.75263769_75263770delinsTC NCBI36
NG_016357.1:g.7584_7585delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2126_2127delinsGA MANE Select ENSP00000497413.1:p.Arg709=
ENST00000393262.3:c.2126_2127delinsGA ENSP00000376946.3:p.Arg709=
NM_024685.3:c.2126_2127delinsGA NP_078961.3:p.Arg709=
NM_024685.4:c.2126_2127delinsGA MANE Select NP_078961.3:p.Arg709=
Search 100 bp 5'
Search 100 bp 3'