×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2420208015
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010214_25010215delinsGC , CM000685.2:g.25010214_25010215delinsGC
GRCh38
NC_000023.10:g.25028331_25028332delinsGC , CM000685.1:g.25028331_25028332delinsGC
GRCh37
NC_000023.9:g.24938252_24938253delinsGC
NCBI36
NG_008281.1:g.10734_10735delinsGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+45_1119+46delinsGC
MANE Select
ENSP00000368332.4:n.1119+45_1119+46delins...
ENST00000379044.4:c.1119+45_1119+46delinsGC
ENSP00000368332.4:n.1119+45_1119+46delins...
NM_139058.2:c.1119+45_1119+46delinsGC
NP_620689.1:n.1119+45_1119+46delinsGC
NM_139058.3:c.1119+45_1119+46delinsGC
MANE Select
NP_620689.1:n.1119+45_1119+46delinsGC
Search 100 bp 5'
Search 100 bp 3'