Canonical Allele Identifier: CA912974176
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1565810263
gnomAD v4: 12-76347721-GATA-G
MyVariant Identifiers: chr12:g.76741502_76741504del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347726_76347728del , CM000674.2:g.76347726_76347728del GRCh38
NC_000012.11:g.76741506_76741508del , CM000674.1:g.76741506_76741508del GRCh37
NC_000012.10:g.75265637_75265639del NCBI36
NG_016357.1:g.5719_5721del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.261_263del MANE Select ENSP00000497413.1:p.Ile88del
ENST00000393262.3:c.261_263del ENSP00000376946.3:p.Ile88del
NM_024685.3:c.261_263del NP_078961.3:p.Ile88del
NM_024685.4:c.261_263del MANE Select NP_078961.3:p.Ile88del
Search 100 bp 5'
Search 100 bp 3'