Canonical Allele Identifier: CA2573159318

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 1685493
• ClinVar RCV Id: RCV002249220
• dbSNP Id: rs2148396057

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153737193del , CM000685.2:g.153737193del	GRCh38
NC_000023.10:g.153002647del , CM000685.1:g.153002647del	GRCh37
NC_000023.9:g.152655841del	NCBI36
NG_009022.2:g.17326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1430del MANE Select	ENSP00000218104.3:p.Glu477GlyfsTer?
ENST00000218104.5:c.1430del	ENSP00000218104.3:p.Glu477GlyfsTer?
ENST00000443684.2:n.433del
NM_000033.3:c.1430del	NP_000024.2:p.Glu477GlyfsTer?
XR_938507.1:n.1902del
XR_938507.2:n.1902del
NM_000033.4:c.1430del MANE Select	NP_000024.2:p.Glu477GlyfsTer?