Canonical Allele Identifier: CA2695046718
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743137_153743153del , CM000685.2:g.153743137_153743153del GRCh38
NC_000023.10:g.153008591_153008607del , CM000685.1:g.153008591_153008607del GRCh37
NC_000023.9:g.152661785_152661801del NCBI36
NG_009022.2:g.23270_23286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1865+66_1866-68del MANE Select ENSP00000218104.3:n.1865+66_1866-68del
ENST00000218104.5:c.1865+66_1866-68del ENSP00000218104.3:n.1865+66_1866-68del
NM_000033.3:c.1865+66_1866-68del NP_000024.2:n.1865+66_1866-68del
XR_938507.1:n.2337+66_2338-68del
XR_938507.2:n.2337+66_2338-68del
NM_000033.4:c.1865+66_1866-68del MANE Select NP_000024.2:n.1865+66_1866-68del