Canonical Allele Identifier: CA2580101769
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1739600
ClinVar RCV Id: RCV002331937
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736201_153736208del , CM000685.2:g.153736201_153736208del GRCh38
NC_000023.10:g.153001655_153001662del , CM000685.1:g.153001655_153001662del GRCh37
NC_000023.9:g.152654849_152654856del NCBI36
NG_009022.2:g.16334_16341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1171_1178del MANE Select ENSP00000218104.3:p.Leu391SerfsTer7
ENST00000218104.5:c.1171_1178del ENSP00000218104.3:p.Leu391SerfsTer7
ENST00000443684.2:n.174_181del
NM_000033.3:c.1171_1178del NP_000024.2:p.Leu391SerfsTer7
XR_938507.1:n.1587_1594del
XR_938507.2:n.1587_1594del
NM_000033.4:c.1171_1178del MANE Select NP_000024.2:p.Leu391SerfsTer7
Search 100 bp 5'
Search 100 bp 3'