Canonical Allele Identifier: CA2466456625
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740681_153740684delinsACGT , CM000685.2:g.153740681_153740684delinsACGT GRCh38
NC_000023.10:g.153006135_153006138delinsACGT , CM000685.1:g.153006135_153006138delinsACGT GRCh37
NC_000023.9:g.152659329_152659332delinsACGT NCBI36
NG_009022.2:g.20814_20817delinsACGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1742_1745delinsACGT MANE Select ENSP00000218104.3:p.Asp581=
ENST00000218104.5:c.1742_1745delinsACGT ENSP00000218104.3:p.Asp581=
NM_000033.3:c.1742_1745delinsACGT NP_000024.2:p.Asp581=
XR_938507.1:n.2214_2217delinsACGT
XR_938507.2:n.2214_2217delinsACGT
NM_000033.4:c.1742_1745delinsACGT MANE Select NP_000024.2:p.Asp581=
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