Canonical Allele Identifier: CA2569260807
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740189del , CM000685.2:g.153740189del GRCh38
NC_000023.10:g.153005643del , CM000685.1:g.153005643del GRCh37
NC_000023.9:g.152658837del NCBI36
NG_009022.2:g.20322del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1586del MANE Select ENSP00000218104.3:p.Gly529ValfsTer29
ENST00000218104.5:c.1586del ENSP00000218104.3:p.Gly529ValfsTer29
ENST00000443684.2:n.589del
NM_000033.3:c.1586del NP_000024.2:p.Gly529ValfsTer29
XR_938507.1:n.2058del
XR_938507.2:n.2058del
NM_000033.4:c.1586del MANE Select NP_000024.2:p.Gly529ValfsTer29