Canonical Allele Identifier: CA2695236828
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740195dup , CM000685.2:g.153740195dup GRCh38
NC_000023.10:g.153005649dup , CM000685.1:g.153005649dup GRCh37
NC_000023.9:g.152658843dup NCBI36
NG_009022.2:g.20328dup

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1592dup MANE Select ENSP00000218104.3:p.Tyr532LeufsTer24
ENST00000218104.5:c.1592dup ENSP00000218104.3:p.Tyr532LeufsTer24
ENST00000443684.2:n.595dup
NM_000033.3:c.1592dup NP_000024.2:p.Tyr532LeufsTer24
XR_938507.1:n.2064dup
XR_938507.2:n.2064dup
NM_000033.4:c.1592dup MANE Select NP_000024.2:p.Tyr532LeufsTer24