Canonical Allele Identifier: CA2580612509
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512156
ClinVar RCV Id: RCV002022883
dbSNP Id: rs2148395492
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736244_153736246del , CM000685.2:g.153736244_153736246del GRCh38
NC_000023.10:g.153001698_153001700del , CM000685.1:g.153001698_153001700del GRCh37
NC_000023.9:g.152654892_152654894del NCBI36
NG_009022.2:g.16377_16379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1214_1216del MANE Select ENSP00000218104.3:p.Ser405del
ENST00000218104.5:c.1214_1216del ENSP00000218104.3:p.Ser405del
ENST00000443684.2:n.217_219del
NM_000033.3:c.1214_1216del NP_000024.2:p.Ser405del
XR_938507.1:n.1630_1632del
XR_938507.2:n.1630_1632del
NM_000033.4:c.1214_1216del MANE Select NP_000024.2:p.Ser405del
Search 100 bp 5'
Search 100 bp 3'