Canonical Allele Identifier: CA2466457479
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091771670
gnomAD v4: X-153742909-G-GCAGCTCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742919_153742927dup , CM000685.2:g.153742919_153742927dup GRCh38
NC_000023.10:g.153008373_153008381dup , CM000685.1:g.153008373_153008381dup GRCh37
NC_000023.9:g.152661567_152661575dup NCBI36
NG_009022.2:g.23052_23060dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1781-68_1781-60dup MANE Select ENSP00000218104.3:n.1781-68_1781-60dup
ENST00000218104.5:c.1781-68_1781-60dup ENSP00000218104.3:n.1781-68_1781-60dup
NM_000033.3:c.1781-68_1781-60dup NP_000024.2:n.1781-68_1781-60dup
XR_938507.1:n.2253-68_2253-60dup
XR_938507.2:n.2253-68_2253-60dup
NM_000033.4:c.1781-68_1781-60dup MANE Select NP_000024.2:n.1781-68_1781-60dup
Search 100 bp 5'
Search 100 bp 3'