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: CA48236537

Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs751394500

gnomAD v2: 2-51959171-G-GT

gnomAD v3: 2-51732033-G-GT

gnomAD v4: 2-51732033-G-GT

MyVariant Identifiers: chr2:g.51959171_51959172insT (hg19) chr2:g.51732033_51732034insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51732034dup , CM000664.2:g.51732034dup	GRCh38
NC_000002.11:g.51959172dup , CM000664.1:g.51959172dup	GRCh37
NC_000002.10:g.51812676dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245003.1:n.754-30055dup
NR_135237.1:n.754-30055dup

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