Canonical Allele Identifier: CA16041584
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1057516836
gnomAD v2: 12-76740905-T-TGA
MyVariant Identifiers: chr12:g.76740906_76740907dupGA (hg19) chr12:g.76740905_76740906insGA (hg19) chr12:g.76347126_76347127dupGA (hg38) chr12:g.76347125_76347126insGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347128_76347129dup , CM000674.2:g.76347128_76347129dup GRCh38
NC_000012.11:g.76740908_76740909dup , CM000674.1:g.76740908_76740909dup GRCh37
NC_000012.10:g.75265039_75265040dup NCBI36
NG_016357.1:g.6316_6317dup

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.858_859dup MANE Select ENSP00000497413.1:p.Gln287LeufsTer12
ENST00000393262.3:c.858_859dup ENSP00000376946.3:p.Gln287LeufsTer12
NM_024685.3:c.858_859dup NP_078961.3:p.Gln287LeufsTer12
NM_024685.4:c.858_859dup MANE Select NP_078961.3:p.Gln287LeufsTer12
Search 100 bp 5'
Search 100 bp 3'