Canonical Allele Identifier: CA2580612515
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322475
ClinVar RCV Id: RCV001781909
dbSNP Id: rs2148399303
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743321_153743322dup , CM000685.2:g.153743321_153743322dup GRCh38
NC_000023.10:g.153008775_153008776dup , CM000685.1:g.153008775_153008776dup GRCh37
NC_000023.9:g.152661969_152661970dup NCBI36
NG_009022.2:g.23454_23455dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1966_1967dup MANE Select ENSP00000218104.3:p.Ile657ProfsTer?
ENST00000218104.5:c.1966_1967dup ENSP00000218104.3:p.Ile657ProfsTer?
NM_000033.3:c.1966_1967dup NP_000024.2:p.Ile657ProfsTer?
XR_938507.1:n.2438_2439dup
XR_938507.2:n.2438_2439dup
NM_000033.4:c.1966_1967dup MANE Select NP_000024.2:p.Ile657ProfsTer?
Search 100 bp 5'
Search 100 bp 3'