Canonical Allele Identifier: CA2695236829
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740201dup , CM000685.2:g.153740201dup GRCh38
NC_000023.10:g.153005655dup , CM000685.1:g.153005655dup GRCh37
NC_000023.9:g.152658849dup NCBI36
NG_009022.2:g.20334dup

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1598dup MANE Select ENSP00000218104.3:p.Pro534AlafsTer22
ENST00000218104.5:c.1598dup ENSP00000218104.3:p.Pro534AlafsTer22
ENST00000443684.2:n.601dup
NM_000033.3:c.1598dup NP_000024.2:p.Pro534AlafsTer22
XR_938507.1:n.2070dup
XR_938507.2:n.2070dup
NM_000033.4:c.1598dup MANE Select NP_000024.2:p.Pro534AlafsTer22