Canonical Allele Identifier: CA2695236850
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743254del , CM000685.2:g.153743254del GRCh38
NC_000023.10:g.153008708del , CM000685.1:g.153008708del GRCh37
NC_000023.9:g.152661902del NCBI36
NG_009022.2:g.23387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1899del MANE Select ENSP00000218104.3:p.Ser633ArgfsTer3
ENST00000218104.5:c.1899del ENSP00000218104.3:p.Ser633ArgfsTer3
NM_000033.3:c.1899del NP_000024.2:p.Ser633ArgfsTer3
XR_938507.1:n.2371del
XR_938507.2:n.2371del
NM_000033.4:c.1899del MANE Select NP_000024.2:p.Ser633ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'