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: CA48266118

Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs984203812

gnomAD v2: 2-52163461-TATG-T

gnomAD v3: 2-51936323-TATG-T

gnomAD v4: 2-51936323-TATG-T

MyVariant Identifiers: chr2:g.52163462_52163464del (hg19) chr2:g.51936324_51936326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51936326_51936328del , CM000664.2:g.51936326_51936328del	GRCh38
NC_000002.11:g.52163464_52163466del , CM000664.1:g.52163464_52163466del	GRCh37
NC_000002.10:g.52016968_52016970del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245003.1:n.879+74838_879+74840del
NR_135237.1:n.879+74838_879+74840del

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