Canonical Allele Identifier: CA2466457644
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743253_153743256delinsGCGC , CM000685.2:g.153743253_153743256delinsGCGC GRCh38
NC_000023.10:g.153008707_153008710delinsGCGC , CM000685.1:g.153008707_153008710delinsGCGC GRCh37
NC_000023.9:g.152661901_152661904delinsGCGC NCBI36
NG_009022.2:g.23386_23389delinsGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1898_1901delinsGCGC MANE Select ENSP00000218104.3:p.Ser633=
ENST00000218104.5:c.1898_1901delinsGCGC ENSP00000218104.3:p.Ser633=
NM_000033.3:c.1898_1901delinsGCGC NP_000024.2:p.Ser633=
XR_938507.1:n.2370_2373delinsGCGC
XR_938507.2:n.2370_2373delinsGCGC
NM_000033.4:c.1898_1901delinsGCGC MANE Select NP_000024.2:p.Ser633=
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