Canonical Allele Identifier: CA2580101691
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804150
ClinVar RCV Id: RCV002468888
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725500_153725831del , CM000685.2:g.153725500_153725831del GRCh38
NC_000023.10:g.152990955_152991286del , CM000685.1:g.152990955_152991286del GRCh37
NC_000023.9:g.152644149_152644480del NCBI36
NG_009022.2:g.5633_5964del
NG_023231.1:g.3916_4247del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.234_565del MANE Select ENSP00000218104.3:p.Leu79AlafsTer5
ENST00000218104.5:c.234_565del ENSP00000218104.3:p.Leu79AlafsTer5
NM_000033.3:c.234_565del NP_000024.2:p.Leu79AlafsTer5
XR_938507.1:n.650_981del
XR_938507.2:n.650_981del
NM_000033.4:c.234_565del MANE Select NP_000024.2:p.Leu79AlafsTer5
Search 100 bp 5'
Search 100 bp 3'