Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA549420841

Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1340265371

gnomAD v2: 4-6271210-AGGCCGGAGTGGTGGATGAAAGGT-A

gnomAD v3: 4-6269483-AGGCCGGAGTGGTGGATGAAAGGT-A

gnomAD v4: 4-6269483-AGGCCGGAGTGGTGGATGAAAGGT-A

MyVariant Identifiers: chr4:g.6271211_6271233del (hg19) chr4:g.6269484_6269506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6269492_6269514del , CM000666.2:g.6269492_6269514del	GRCh38
NC_000004.11:g.6271219_6271241del , CM000666.1:g.6271219_6271241del	GRCh37
NC_000004.10:g.6322120_6322142del	NCBI36
NG_011700.1:g.4643_4665del

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+7853_4+7875del	XP_016864075.1:n.4+7853_4+7875del

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