Canonical Allele Identifier: CA2695237382

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153725690del , CM000685.2:g.153725690del	GRCh38
NC_000023.10:g.152991145del , CM000685.1:g.152991145del	GRCh37
NC_000023.9:g.152644339del	NCBI36
NG_009022.2:g.5823del
NG_023231.1:g.4059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.424del MANE Select	ENSP00000218104.3:p.Leu142SerfsTer?
ENST00000218104.5:c.424del	ENSP00000218104.3:p.Leu142SerfsTer?
NM_000033.3:c.424del	NP_000024.2:p.Leu142SerfsTer?
XR_938507.1:n.840del
XR_938507.2:n.840del
NM_000033.4:c.424del MANE Select	NP_000024.2:p.Leu142SerfsTer?