Canonical Allele Identifier: CA915951990
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817493
ClinVar RCV Id: RCV001008624 RCV001862753
dbSNP Id: rs1603236013
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743288del , CM000685.2:g.153743288del GRCh38
NC_000023.10:g.153008742del , CM000685.1:g.153008742del GRCh37
NC_000023.9:g.152661936del NCBI36
NG_009022.2:g.23421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1933del MANE Select ENSP00000218104.3:p.Gln645ArgfsTer?
ENST00000218104.5:c.1933del ENSP00000218104.3:p.Gln645ArgfsTer?
NM_000033.3:c.1933del NP_000024.2:p.Gln645ArgfsTer?
XR_938507.1:n.2405del
XR_938507.2:n.2405del
NM_000033.4:c.1933del MANE Select NP_000024.2:p.Gln645ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'