Canonical Allele Identifier: CA2695236838
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740656del , CM000685.2:g.153740656del GRCh38
NC_000023.10:g.153006110del , CM000685.1:g.153006110del GRCh37
NC_000023.9:g.152659304del NCBI36
NG_009022.2:g.20789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1717del MANE Select ENSP00000218104.3:p.Glu573SerfsTer?
ENST00000218104.5:c.1717del ENSP00000218104.3:p.Glu573SerfsTer?
NM_000033.3:c.1717del NP_000024.2:p.Glu573SerfsTer?
XR_938507.1:n.2189del
XR_938507.2:n.2189del
NM_000033.4:c.1717del MANE Select NP_000024.2:p.Glu573SerfsTer?