Canonical Allele Identifier: CA2579730047
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737168del , CM000685.2:g.153737168del GRCh38
NC_000023.10:g.153002622del , CM000685.1:g.153002622del GRCh37
NC_000023.9:g.152655816del NCBI36
NG_009022.2:g.17301del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1405del MANE Select ENSP00000218104.3:p.Asp469MetfsTer?
ENST00000218104.5:c.1405del ENSP00000218104.3:p.Asp469MetfsTer?
ENST00000443684.2:n.408del
NM_000033.3:c.1405del NP_000024.2:p.Asp469MetfsTer?
XR_938507.1:n.1877del
XR_938507.2:n.1877del
NM_000033.4:c.1405del MANE Select NP_000024.2:p.Asp469MetfsTer?