Canonical Allele Identifier: CA2499226448
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1297042
ClinVar RCV Id: RCV001724778
dbSNP Id: rs2148389994
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726152_153726153delinsAG , CM000685.2:g.153726152_153726153delinsAG GRCh38
NC_000023.10:g.152991607_152991608delinsAG , CM000685.1:g.152991607_152991608delinsAG GRCh37
NC_000023.9:g.152644801_152644802delinsAG NCBI36
NG_009022.2:g.6285_6286delinsAG
NG_023231.1:g.3594_3595delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.886_887delinsAG MANE Select ENSP00000218104.3:p.Tyr296Ser
ENST00000218104.5:c.886_887delinsAG ENSP00000218104.3:p.Tyr296Ser
ENST00000370129.4:c.331_332delinsAG ENSP00000359147.3:p.Tyr111Ser
NM_000033.3:c.886_887delinsAG NP_000024.2:p.Tyr296Ser
XR_938507.1:n.1302_1303delinsAG
XR_938507.2:n.1302_1303delinsAG
NM_000033.4:c.886_887delinsAG MANE Select NP_000024.2:p.Tyr296Ser
Search 100 bp 5'
Search 100 bp 3'