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: CA320746

Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213549

ClinVar RCV Id: RCV000196332

dbSNP Id: rs863223663

MyVariant Identifiers: chr20:g.10639273dupA (hg19) chr20:g.10639272_10639273insA (hg19) chr20:g.10658625dupA (hg38) chr20:g.10658624_10658625insA (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658627dup , CM000682.2:g.10658627dup	GRCh38
NC_000020.10:g.10639275dup , CM000682.1:g.10639275dup	GRCh37
NC_000020.9:g.10587275dup	NCBI36
NG_007496.1:g.20422dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.537dup MANE Select	ENSP00000254958.4:p.Glu180Ter
ENST00000254958.9:c.537dup	ENSP00000254958.4:p.Glu180Ter
ENST00000423891.6:n.403dup
NM_000214.2:c.537dup	NP_000205.1:p.Glu180Ter
NM_000214.3:c.537dup MANE Select	NP_000205.1:p.Glu180Ter

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