Canonical Allele Identifier: CA2579730045
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737165del , CM000685.2:g.153737165del GRCh38
NC_000023.10:g.153002619del , CM000685.1:g.153002619del GRCh37
NC_000023.9:g.152655813del NCBI36
NG_009022.2:g.17298del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1402del MANE Select ENSP00000218104.3:p.Val468TrpfsTer?
ENST00000218104.5:c.1402del ENSP00000218104.3:p.Val468TrpfsTer?
ENST00000443684.2:n.405del
NM_000033.3:c.1402del NP_000024.2:p.Val468TrpfsTer?
XR_938507.1:n.1874del
XR_938507.2:n.1874del
NM_000033.4:c.1402del MANE Select NP_000024.2:p.Val468TrpfsTer?