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: CA781072360

Gene:

Linked Data

dbSNP Id: rs1237224490

gnomAD v3: 18-60262224-GAGTGCATATTGATGGATTAGTTCAGTTCTA-G

gnomAD v4: 18-60262224-GAGTGCATATTGATGGATTAGTTCAGTTCTA-G

MyVariant Identifiers: chr18:g.57929458_57929487del (hg19) chr18:g.60262225_60262254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60262228_60262257del , CM000680.2:g.60262228_60262257del	GRCh38
NC_000018.9:g.57929461_57929490del , CM000680.1:g.57929461_57929490del	GRCh37
NC_000018.8:g.56080441_56080470del	NCBI36

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