Canonical Allele Identifier: CA10550336
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs782015941
ExAC: X:153008558 T / TC
gnomAD v2: X-153008558-T-TC
gnomAD v4: X-153743104-T-TC
MyVariant Identifiers: chrX:g.153008558_153008559insC (hg19) chrX:g.153743104_153743105insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743108dup , CM000685.2:g.153743108dup GRCh38
NC_000023.10:g.153008562dup , CM000685.1:g.153008562dup GRCh37
NC_000023.9:g.152661756dup NCBI36
NG_009022.2:g.23241dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1865+37dup MANE Select ENSP00000218104.3:n.1865+37dup
ENST00000218104.5:c.1865+37dup ENSP00000218104.3:n.1865+37dup
NM_000033.3:c.1865+37dup NP_000024.2:n.1865+37dup
XR_938507.1:n.2337+37dup
XR_938507.2:n.2337+37dup
NM_000033.4:c.1865+37dup MANE Select NP_000024.2:n.1865+37dup
Search 100 bp 5'
Search 100 bp 3'