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: CA532709283

Gene: NRXN1-DT HGNC NCBI

Linked Data

gnomAD v2: 2-52163191-TATATATATGTATATATATATATGTATATATATATATGTATATATATATGTATATATATCAGTAAAC-T

gnomAD v3: 2-51936053-TATATATATGTATATATATATATGTATATATATATATGTATATATATATGTATATATATCAGTAAAC-T

gnomAD v4: 2-51936053-TATATATATGTATATATATATATGTATATATATATATGTATATATATATGTATATATATCAGTAAAC-T

MyVariant Identifiers: chr2:g.52163192_52163257del (hg19) chr2:g.51936054_51936119del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51936056_51936121del , CM000664.2:g.51936056_51936121del	GRCh38
NC_000002.11:g.52163194_52163259del , CM000664.1:g.52163194_52163259del	GRCh37
NC_000002.10:g.52016698_52016763del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245003.1:n.879+74568_879+74633del
NR_135237.1:n.879+74568_879+74633del

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