Canonical Allele Identifier: CA2580101783
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2022340
ClinVar RCV Id: RCV002875576

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737155_153737167del , CM000685.2:g.153737155_153737167del GRCh38
NC_000023.10:g.153002609_153002621del , CM000685.1:g.153002609_153002621del GRCh37
NC_000023.9:g.152655803_152655815del NCBI36
NG_009022.2:g.17288_17300del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1394-2_1404del
ENST00000218104.5:c.1394-2_1404del
ENST00000443684.2:n.397-2_407del
NM_000033.3:c.1394-2_1404del
XR_938507.1:n.1866-2_1876del
XR_938507.2:n.1866-2_1876del
NM_000033.4:c.1394-2_1404del