Canonical Allele Identifier: CA2579730134
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743069_153743070del , CM000685.2:g.153743069_153743070del GRCh38
NC_000023.10:g.153008523_153008524del , CM000685.1:g.153008523_153008524del GRCh37
NC_000023.9:g.152661717_152661718del NCBI36
NG_009022.2:g.23202_23203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1863_1864del MANE Select ENSP00000218104.3:p.His621GlnfsTer9
ENST00000218104.5:c.1863_1864del ENSP00000218104.3:p.His621GlnfsTer9
NM_000033.3:c.1863_1864del NP_000024.2:p.His621GlnfsTer9
XR_938507.1:n.2335_2336del
XR_938507.2:n.2335_2336del
NM_000033.4:c.1863_1864del MANE Select NP_000024.2:p.His621GlnfsTer9
Search 100 bp 5'
Search 100 bp 3'