Canonical Allele Identifier: CA2580101696
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2086784
ClinVar RCV Id: RCV003007657
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743231_153743232delinsTT , CM000685.2:g.153743231_153743232delinsTT GRCh38
NC_000023.10:g.153008685_153008686delinsTT , CM000685.1:g.153008685_153008686delinsTT GRCh37
NC_000023.9:g.152661879_152661880delinsTT NCBI36
NG_009022.2:g.23364_23365delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1876_1877delinsTT MANE Select ENSP00000218104.3:p.Ala626Phe
ENST00000218104.5:c.1876_1877delinsTT ENSP00000218104.3:p.Ala626Phe
NM_000033.3:c.1876_1877delinsTT NP_000024.2:p.Ala626Phe
XR_938507.1:n.2348_2349delinsTT
XR_938507.2:n.2348_2349delinsTT
NM_000033.4:c.1876_1877delinsTT MANE Select NP_000024.2:p.Ala626Phe
Search 100 bp 5'
Search 100 bp 3'