Canonical Allele Identifier: CA2573055142
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2148395460
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736213del , CM000685.2:g.153736213del GRCh38
NC_000023.10:g.153001667del , CM000685.1:g.153001667del GRCh37
NC_000023.9:g.152654861del NCBI36
NG_009022.2:g.16346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1183del MANE Select ENSP00000218104.3:p.Ala395LeufsTer15
ENST00000218104.5:c.1183del ENSP00000218104.3:p.Ala395LeufsTer15
ENST00000443684.2:n.186del
NM_000033.3:c.1183del NP_000024.2:p.Ala395LeufsTer15
XR_938507.1:n.1599del
XR_938507.2:n.1599del
NM_000033.4:c.1183del MANE Select NP_000024.2:p.Ala395LeufsTer15
Search 100 bp 5'
Search 100 bp 3'