Canonical Allele Identifier: CA2739273815
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836421
ClinVar RCV Id: RCV003625603
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740670_153740681del , CM000685.2:g.153740670_153740681del GRCh38
NC_000023.10:g.153006124_153006135del , CM000685.1:g.153006124_153006135del GRCh37
NC_000023.9:g.152659318_152659329del NCBI36
NG_009022.2:g.20803_20814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1731_1742del MANE Select ENSP00000218104.3:p.Glu577_Leu580del
ENST00000218104.5:c.1731_1742del ENSP00000218104.3:p.Glu577_Leu580del
NM_000033.3:c.1731_1742del NP_000024.2:p.Glu577_Leu580del
XR_938507.1:n.2203_2214del
XR_938507.2:n.2203_2214del
NM_000033.4:c.1731_1742del MANE Select NP_000024.2:p.Glu577_Leu580del
Search 100 bp 5'
Search 100 bp 3'