Canonical Allele Identifier: CA2466455256
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736723_153736725delinsCAG , CM000685.2:g.153736723_153736725delinsCAG GRCh38
NC_000023.10:g.153002177_153002179delinsCAG , CM000685.1:g.153002177_153002179delinsCAG GRCh37
NC_000023.9:g.152655371_152655373delinsCAG NCBI36
NG_009022.2:g.16856_16858delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+210_1393+212delinsCAG MANE Select ENSP00000218104.3:n.1393+210_1393+212delinsCAG
ENST00000218104.5:c.1393+210_1393+212delinsCAG ENSP00000218104.3:n.1393+210_1393+212delinsCAG
ENST00000443684.2:n.396+210_396+212delinsCAG
NM_000033.3:c.1393+210_1393+212delinsCAG NP_000024.2:n.1393+210_1393+212delinsCAG
XR_938507.1:n.1810-133_1810-131delinsCAG
XR_938507.2:n.1810-133_1810-131delinsCAG
NM_000033.4:c.1393+210_1393+212delinsCAG MANE Select NP_000024.2:n.1393+210_1393+212delinsCAG