×
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:
CA2695236828
Gene: ABCD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153740195dup , CM000685.2:g.153740195dup
GRCh38
NC_000023.10:g.153005649dup , CM000685.1:g.153005649dup
GRCh37
NC_000023.9:g.152658843dup
NCBI36
NG_009022.2:g.20328dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000218104.6:c.1592dup
MANE Select
ENSP00000218104.3:p.Tyr532LeufsTer24
ENST00000218104.5:c.1592dup
ENSP00000218104.3:p.Tyr532LeufsTer24
ENST00000443684.2:n.595dup
NM_000033.3:c.1592dup
NP_000024.2:p.Tyr532LeufsTer24
XR_938507.1:n.2064dup
XR_938507.2:n.2064dup
NM_000033.4:c.1592dup
MANE Select
NP_000024.2:p.Tyr532LeufsTer24
Search 100 bp 5'
Search 100 bp 3'