Canonical Allele Identifier: CA2695237353
Gene: ABCD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736239del , CM000685.2:g.153736239del GRCh38
NC_000023.10:g.153001693del , CM000685.1:g.153001693del GRCh37
NC_000023.9:g.152654887del NCBI36
NG_009022.2:g.16372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1209del MANE Select ENSP00000218104.3:p.Met403IlefsTer7
ENST00000218104.5:c.1209del ENSP00000218104.3:p.Met403IlefsTer7
ENST00000443684.2:n.212del
NM_000033.3:c.1209del NP_000024.2:p.Met403IlefsTer7
XR_938507.1:n.1625del
XR_938507.2:n.1625del
NM_000033.4:c.1209del MANE Select NP_000024.2:p.Met403IlefsTer7
Search 100 bp 5'
Search 100 bp 3'