Canonical Allele Identifier: CA6694127
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2088157
ClinVar RCV Id: RCV003018032
dbSNP Id: rs748894736
ExAC: 12:76740089 TAAG / T
gnomAD v2: 12-76740089-TAAG-T
gnomAD v4: 12-76346309-TAAG-T
MyVariant Identifiers: chr12:g.76740090_76740092del (hg19) chr12:g.76346310_76346312del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346312_76346314del , CM000674.2:g.76346312_76346314del GRCh38
NC_000012.11:g.76740092_76740094del , CM000674.1:g.76740092_76740094del GRCh37
NC_000012.10:g.75264223_75264225del NCBI36
NG_016357.1:g.7131_7133del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1673_1675del MANE Select ENSP00000497413.1:p.Ser558del
ENST00000393262.3:c.1673_1675del ENSP00000376946.3:p.Ser558del
NM_024685.3:c.1673_1675del NP_078961.3:p.Ser558del
NM_024685.4:c.1673_1675del MANE Select NP_078961.3:p.Ser558del
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