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: CA769946061

Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs574757117

gnomAD v3: 2-51936338-GAA-G

gnomAD v4: 2-51936338-GAA-G

MyVariant Identifiers: chr2:g.52163477_52163478del (hg19) chr2:g.51936339_51936340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51936350_51936351del , CM000664.2:g.51936350_51936351del	GRCh38
NC_000002.11:g.52163488_52163489del , CM000664.1:g.52163488_52163489del	GRCh37
NC_000002.10:g.52016992_52016993del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245003.1:n.879+74862_879+74863del
NR_135237.1:n.879+74862_879+74863del

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