Canonical Allele Identifier: CA606185887
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1445806644
gnomAD v2: 12-76739638-TC-T
gnomAD v3: 12-76345858-TC-T
gnomAD v4: 12-76345858-TC-T
MyVariant Identifiers: chr12:g.76739639del (hg19) chr12:g.76345859del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345859del , CM000674.2:g.76345859del GRCh38
NC_000012.11:g.76739639del , CM000674.1:g.76739639del GRCh37
NC_000012.10:g.75263770del NCBI36
NG_016357.1:g.7584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2126del MANE Select ENSP00000497413.1:p.Arg709AsnfsTer21
ENST00000393262.3:c.2126del ENSP00000376946.3:p.Arg709AsnfsTer21
NM_024685.3:c.2126del NP_078961.3:p.Arg709AsnfsTer21
NM_024685.4:c.2126del MANE Select NP_078961.3:p.Arg709AsnfsTer21
Search 100 bp 5'
Search 100 bp 3'