×
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:
CA2579637394
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25010206_25010209del , CM000685.2:g.25010206_25010209del
GRCh38
NC_000023.10:g.25028323_25028326del , CM000685.1:g.25028323_25028326del
GRCh37
NC_000023.9:g.24938244_24938247del
NCBI36
NG_008281.1:g.10741_10744del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+52_1119+55del
MANE Select
ENSP00000368332.4:n.1119+52_1119+55del
ENST00000379044.4:c.1119+52_1119+55del
ENSP00000368332.4:n.1119+52_1119+55del
NM_139058.2:c.1119+52_1119+55del
NP_620689.1:n.1119+52_1119+55del
NM_139058.3:c.1119+52_1119+55del
MANE Select
NP_620689.1:n.1119+52_1119+55del
Search 100 bp 5'
Search 100 bp 3'