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: CA766253891

Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs1328122432

MyVariant Identifiers: chr2:g.233250175_233250176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233250175_233250176del , CM000664.2:g.233250175_233250176del	GRCh38
NC_000002.11:g.234158821_234158822del , CM000664.1:g.234158821_234158822del	GRCh37
NC_000002.10:g.233823560_233823561del	NCBI36
NG_023038.1:g.3605_3606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431917.5:c.-137-5927_-137-5926del	ENSP00000397512.1:n.-137-5927_-137-5926del

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