Canonical Allele Identifier: CA2573055135
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322512
ClinVar RCV Id: RCV001781946
dbSNP Id: rs2148389181
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725691_153725692del , CM000685.2:g.153725691_153725692del GRCh38
NC_000023.10:g.152991146_152991147del , CM000685.1:g.152991146_152991147del GRCh37
NC_000023.9:g.152644340_152644341del NCBI36
NG_009022.2:g.5824_5825del
NG_023231.1:g.4056_4057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.425_426del MANE Select ENSP00000218104.3:p.Leu142ProfsTer?
ENST00000218104.5:c.425_426del ENSP00000218104.3:p.Leu142ProfsTer?
NM_000033.3:c.425_426del NP_000024.2:p.Leu142ProfsTer?
XR_938507.1:n.841_842del
XR_938507.2:n.841_842del
NM_000033.4:c.425_426del MANE Select NP_000024.2:p.Leu142ProfsTer?
Search 100 bp 5'
Search 100 bp 3'