Canonical Allele Identifier: CA10550163
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs782264940
ExAC: X:153001761 C / CA
gnomAD v4: X-153736307-C-CA
MyVariant Identifiers: chrX:g.153001761_153001762insA (hg19) chrX:g.153736307_153736308insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736309dup , CM000685.2:g.153736309dup GRCh38
NC_000023.10:g.153001763dup , CM000685.1:g.153001763dup GRCh37
NC_000023.9:g.152654957dup NCBI36
NG_009022.2:g.16442dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1225-36dup MANE Select ENSP00000218104.3:n.1225-36dup
ENST00000218104.5:c.1225-36dup ENSP00000218104.3:n.1225-36dup
ENST00000443684.2:n.228-36dup
NM_000033.3:c.1225-36dup NP_000024.2:n.1225-36dup
XR_938507.1:n.1641-36dup
XR_938507.2:n.1641-36dup
NM_000033.4:c.1225-36dup MANE Select NP_000024.2:n.1225-36dup
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