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: CA945559551

Gene: ST8SIA1 HGNC NCBI

Linked Data

dbSNP Id: rs1867535352

gnomAD v3: 12-22413437-AG-A

gnomAD v4: 12-22413437-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.22413439del , CM000674.2:g.22413439del	GRCh38
NC_000012.11:g.22566373del , CM000674.1:g.22566373del	GRCh37
NC_000012.10:g.22457640del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000536558.5:n.166+23438del

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