Canonical Allele Identifier: CA2466455068
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736231_153736232delinsCG , CM000685.2:g.153736231_153736232delinsCG GRCh38
NC_000023.10:g.153001685_153001686delinsCG , CM000685.1:g.153001685_153001686delinsCG GRCh37
NC_000023.9:g.152654879_152654880delinsCG NCBI36
NG_009022.2:g.16364_16365delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1201_1202delinsCG MANE Select ENSP00000218104.3:p.Arg401=
ENST00000218104.5:c.1201_1202delinsCG ENSP00000218104.3:p.Arg401=
ENST00000443684.2:n.204_205delinsCG
NM_000033.3:c.1201_1202delinsCG NP_000024.2:p.Arg401=
XR_938507.1:n.1617_1618delinsCG
XR_938507.2:n.1617_1618delinsCG
NM_000033.4:c.1201_1202delinsCG MANE Select NP_000024.2:p.Arg401=