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: CA2598002048

Gene: NRXN1-DT HGNC NCBI

Linked Data

gnomAD v3: 2-51936338-G-GAAAAAA

gnomAD v4: 2-51936338-G-GAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51936346_51936351dup , CM000664.2:g.51936346_51936351dup	GRCh38
NC_000002.11:g.52163484_52163489dup , CM000664.1:g.52163484_52163489dup	GRCh37
NC_000002.10:g.52016988_52016993dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245003.1:n.879+74858_879+74863dup
NR_135237.1:n.879+74858_879+74863dup

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