Canonical Allele Identifier: CA645509234
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439349
ClinVar RCV Id: RCV000507704 RCV000991474 RCV001800721
dbSNP Id: rs1557054318
MyVariant Identifiers: chrX:g.153002657del (hg19) chrX:g.153737203del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153737203del , CM000685.2:g.153737203del GRCh38
NC_000023.10:g.153002657del , CM000685.1:g.153002657del GRCh37
NC_000023.9:g.152655851del NCBI36
NG_009022.2:g.17336del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1440del MANE Select ENSP00000218104.3:p.Ile481SerfsTer?
ENST00000218104.5:c.1440del ENSP00000218104.3:p.Ile481SerfsTer?
ENST00000443684.2:n.443del
NM_000033.3:c.1440del NP_000024.2:p.Ile481SerfsTer?
XR_938507.1:n.1912del
XR_938507.2:n.1912del
NM_000033.4:c.1440del MANE Select NP_000024.2:p.Ile481SerfsTer?
Search 100 bp 5'
Search 100 bp 3'