Canonical Allele Identifier: CA2466457664
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743286_153743287delinsTC , CM000685.2:g.153743286_153743287delinsTC GRCh38
NC_000023.10:g.153008740_153008741delinsTC , CM000685.1:g.153008740_153008741delinsTC GRCh37
NC_000023.9:g.152661934_152661935delinsTC NCBI36
NG_009022.2:g.23419_23420delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1931_1932delinsTC MANE Select ENSP00000218104.3:p.Phe644=
ENST00000218104.5:c.1931_1932delinsTC ENSP00000218104.3:p.Phe644=
NM_000033.3:c.1931_1932delinsTC NP_000024.2:p.Phe644=
XR_938507.1:n.2403_2404delinsTC
XR_938507.2:n.2403_2404delinsTC
NM_000033.4:c.1931_1932delinsTC MANE Select NP_000024.2:p.Phe644=
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