Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA6694366

Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 371651

ClinVar RCV Id: RCV001382787

dbSNP Id: rs774095109

ExAC: 12:76741399 A / AT

gnomAD v2: 12-76741399-A-AT

gnomAD v4: 12-76347619-A-AT

MyVariant Identifiers: chr12:g.76741400dupT (hg19) chr12:g.76741399_76741400insT (hg19) chr12:g.76347620dupT (hg38) chr12:g.76347619_76347620insT (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347624dup , CM000674.2:g.76347624dup	GRCh38
NC_000012.11:g.76741404dup , CM000674.1:g.76741404dup	GRCh37
NC_000012.10:g.75265535dup	NCBI36
NG_016357.1:g.5823dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650064.2:c.365dup MANE Select	ENSP00000497413.1:p.Asn122LysfsTer30
ENST00000393262.3:c.365dup	ENSP00000376946.3:p.Asn122LysfsTer30
NM_024685.3:c.365dup	NP_078961.3:p.Asn122LysfsTer30
NM_024685.4:c.365dup MANE Select	NP_078961.3:p.Asn122LysfsTer30

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