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: CA625447435

Gene:

Linked Data

dbSNP Id: rs1480373023

gnomAD v2: 17-28564274-GGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA-G

gnomAD v3: 17-30237256-GGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA-G

gnomAD v4: 17-30237256-GGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGA-G

MyVariant Identifiers: chr17:g.28564275_28564317del (hg19) chr17:g.30237257_30237299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237265_30237307del , CM000679.2:g.30237265_30237307del	GRCh38
NC_000017.10:g.28564283_28564325del , CM000679.1:g.28564283_28564325del	GRCh37
NC_000017.9:g.25588409_25588451del	NCBI36
NG_011747.2:g.3638_3680del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+195_165+237del
XR_001752824.1:n.280+195_280+237del

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