Canonical Allele Identifier: CA2695237376
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725682_153725693del , CM000685.2:g.153725682_153725693del GRCh38
NC_000023.10:g.152991137_152991148del , CM000685.1:g.152991137_152991148del GRCh37
NC_000023.9:g.152644331_152644342del NCBI36
NG_009022.2:g.5815_5826del
NG_023231.1:g.4058_4069del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.416_427del MANE Select ENSP00000218104.3:p.Leu139_Leu142del
ENST00000218104.5:c.416_427del ENSP00000218104.3:p.Leu139_Leu142del
NM_000033.3:c.416_427del NP_000024.2:p.Leu139_Leu142del
XR_938507.1:n.832_843del
XR_938507.2:n.832_843del
NM_000033.4:c.416_427del MANE Select NP_000024.2:p.Leu139_Leu142del