Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1139667832

Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 958663

ClinVar RCV Id: RCV001231869

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740681_153742019del , CM000685.2:g.153740681_153742019del	GRCh38
NC_000023.10:g.153006135_153007473del , CM000685.1:g.153006135_153007473del	GRCh37
NC_000023.9:g.152659329_152660667del	NCBI36
NG_009022.2:g.20814_22152del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1742_1781-968del
ENST00000218104.5:c.1742_1781-968del
NM_000033.3:c.1742_1781-968del
XR_938507.1:n.2214_2253-968del
XR_938507.2:n.2214_2253-968del
NM_000033.4:c.1742_1781-968del

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