Canonical Allele Identifier: CA532709247
Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1204777972
gnomAD v2: 2-52163171-CGTAT-C
gnomAD v3: 2-51936033-CGTAT-C
gnomAD v4: 2-51936033-CGTAT-C
MyVariant Identifiers: chr2:g.52163172_52163175del (hg19) chr2:g.52163172_52163189delinsATATATATATGTAT (hg19) chr2:g.51936034_51936037del (hg38) chr2:g.51936034_51936051delinsATATATATATGTAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.51936034_51936037del , CM000664.2:g.51936034_51936037del GRCh38
NC_000002.11:g.52163172_52163175del , CM000664.1:g.52163172_52163175del GRCh37
NC_000002.10:g.52016676_52016679del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245003.1:n.879+74546_879+74549del
NR_135237.1:n.879+74546_879+74549del
Search 100 bp 5'
Search 100 bp 3'