Canonical Allele Identifier: CA2739290595
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736395del , CM000685.2:g.153736395del GRCh38
NC_000023.10:g.153001849del , CM000685.1:g.153001849del GRCh37
NC_000023.9:g.152655043del NCBI36
NG_009022.2:g.16528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1275del MANE Select ENSP00000218104.3:p.Phe426LeufsTer15
ENST00000218104.5:c.1275del ENSP00000218104.3:p.Phe426LeufsTer15
ENST00000443684.2:n.278del
NM_000033.3:c.1275del NP_000024.2:p.Phe426LeufsTer15
XR_938507.1:n.1691del
XR_938507.2:n.1691del
NM_000033.4:c.1275del MANE Select NP_000024.2:p.Phe426LeufsTer15
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