Canonical Allele Identifier: CA2466457551
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743062_153743065delinsTCTA , CM000685.2:g.153743062_153743065delinsTCTA GRCh38
NC_000023.10:g.153008516_153008519delinsTCTA , CM000685.1:g.153008516_153008519delinsTCTA GRCh37
NC_000023.9:g.152661710_152661713delinsTCTA NCBI36
NG_009022.2:g.23195_23198delinsTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1856_1859delinsTCTA MANE Select ENSP00000218104.3:p.Phe619=
ENST00000218104.5:c.1856_1859delinsTCTA ENSP00000218104.3:p.Phe619=
NM_000033.3:c.1856_1859delinsTCTA NP_000024.2:p.Phe619=
XR_938507.1:n.2328_2331delinsTCTA
XR_938507.2:n.2328_2331delinsTCTA
NM_000033.4:c.1856_1859delinsTCTA MANE Select NP_000024.2:p.Phe619=