Canonical Allele Identifier: CA278118
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs387906496

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726140_153726142del , CM000685.2:g.153726140_153726142del GRCh38
NC_000023.10:g.152991595_152991597del , CM000685.1:g.152991595_152991597del GRCh37
NC_000023.9:g.152644789_152644791del NCBI36
NG_009022.2:g.6273_6275del
NG_023231.1:g.3609_3611del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.874_876del MANE Select ENSP00000218104.3:p.Glu292del
ENST00000218104.5:c.874_876del ENSP00000218104.3:p.Glu292del
ENST00000370129.4:c.319_321del ENSP00000359147.3:p.Glu107del
NM_000033.3:c.874_876del NP_000024.2:p.Glu292del
XR_938507.1:n.1290_1292del
XR_938507.2:n.1290_1292del
NM_000033.4:c.874_876del MANE Select NP_000024.2:p.Glu292del