Canonical Allele Identifier: CA2695237419

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153737199del , CM000685.2:g.153737199del	GRCh38
NC_000023.10:g.153002653del , CM000685.1:g.153002653del	GRCh37
NC_000023.9:g.152655847del	NCBI36
NG_009022.2:g.17332del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1436del MANE Select	ENSP00000218104.3:p.Ile479ThrfsTer?
ENST00000218104.5:c.1436del	ENSP00000218104.3:p.Ile479ThrfsTer?
ENST00000443684.2:n.439del
NM_000033.3:c.1436del	NP_000024.2:p.Ile479ThrfsTer?
XR_938507.1:n.1908del
XR_938507.2:n.1908del
NM_000033.4:c.1436del MANE Select	NP_000024.2:p.Ile479ThrfsTer?