Canonical Allele Identifier: CA1139532865
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256208
ClinVar RCV Id: RCV001663550
dbSNP Id: rs2148399308
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743325_153743327del , CM000685.2:g.153743325_153743327del GRCh38
NC_000023.10:g.153008779_153008781del , CM000685.1:g.153008779_153008781del GRCh37
NC_000023.9:g.152661973_152661975del NCBI36
NG_009022.2:g.23458_23460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1970_1972del MANE Select ENSP00000218104.3:p.Ile657del
ENST00000218104.5:c.1970_1972del ENSP00000218104.3:p.Ile657del
NM_000033.3:c.1970_1972del NP_000024.2:p.Ile657del
XR_938507.1:n.2442_2444del
XR_938507.2:n.2442_2444del
NM_000033.4:c.1970_1972del MANE Select NP_000024.2:p.Ile657del
Search 100 bp 5'
Search 100 bp 3'