Canonical Allele Identifier: CA913190594
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 594664
ClinVar RCV Id: RCV000730014
dbSNP Id: rs1569541007
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736233del , CM000685.2:g.153736233del GRCh38
NC_000023.10:g.153001687del , CM000685.1:g.153001687del GRCh37
NC_000023.9:g.152654881del NCBI36
NG_009022.2:g.16366del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1203del MANE Select ENSP00000218104.3:p.Ile402SerfsTer8
ENST00000218104.5:c.1203del ENSP00000218104.3:p.Ile402SerfsTer8
ENST00000443684.2:n.206del
NM_000033.3:c.1203del NP_000024.2:p.Ile402SerfsTer8
XR_938507.1:n.1619del
XR_938507.2:n.1619del
NM_000033.4:c.1203del MANE Select NP_000024.2:p.Ile402SerfsTer8
Search 100 bp 5'
Search 100 bp 3'