Canonical Allele Identifier: CA2695236839
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740665dup , CM000685.2:g.153740665dup GRCh38
NC_000023.10:g.153006119dup , CM000685.1:g.153006119dup GRCh37
NC_000023.9:g.152659313dup NCBI36
NG_009022.2:g.20798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1726dup MANE Select ENSP00000218104.3:p.Leu576ProfsTer25
ENST00000218104.5:c.1726dup ENSP00000218104.3:p.Leu576ProfsTer25
NM_000033.3:c.1726dup NP_000024.2:p.Leu576ProfsTer25
XR_938507.1:n.2198dup
XR_938507.2:n.2198dup
NM_000033.4:c.1726dup MANE Select NP_000024.2:p.Leu576ProfsTer25
Search 100 bp 5'
Search 100 bp 3'