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: CA16043533

Gene: DLX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 373912

ClinVar RCV Id: RCV000415464 RCV001198203

dbSNP Id: rs1057518764

MyVariant Identifiers: chr17:g.48069171dupC (hg19) chr17:g.48069170_48069171insC (hg19) chr17:g.49991807dupC (hg38) chr17:g.49991806_49991807insC (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49991810dup , CM000679.2:g.49991810dup	GRCh38
NC_000017.10:g.48069174dup , CM000679.1:g.48069174dup	GRCh37
NC_000017.9:g.45424173dup	NCBI36
NG_023063.1:g.8418dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000434704.2:c.574dup MANE Select	ENSP00000389870.2:p.Glu192GlyfsTer10
ENST00000512495.2:c.214dup	ENSP00000449976.1:p.Glu72GlyfsTer10
NM_005220.2:c.574dup	NP_005211.1:p.Glu192GlyfsTer10
XM_011524458.1:c.516+1593dup	XP_011522760.1:n.516+1593dup
NM_005220.3:c.574dup MANE Select	NP_005211.1:p.Glu192GlyfsTer10

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