Canonical Allele Identifier: CA1139667833
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 974616
ClinVar RCV Id: RCV001250797
dbSNP Id: rs2091774003
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743316_153743330dup , CM000685.2:g.153743316_153743330dup GRCh38
NC_000023.10:g.153008770_153008784dup , CM000685.1:g.153008770_153008784dup GRCh37
NC_000023.9:g.152661964_152661978dup NCBI36
NG_009022.2:g.23449_23463dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1961_1975dup MANE Select ENSP00000218104.3:p.Thr658_His659insLeuLeuSerIleThr
ENST00000218104.5:c.1961_1975dup ENSP00000218104.3:p.Thr658_His659insLeuLeuSerIleThr
NM_000033.3:c.1961_1975dup NP_000024.2:p.Thr658_His659insLeuLeuSerIleThr
XR_938507.1:n.2433_2447dup
XR_938507.2:n.2433_2447dup
NM_000033.4:c.1961_1975dup MANE Select NP_000024.2:p.Thr658_His659insLeuLeuSerIleThr
Search 100 bp 5'
Search 100 bp 3'