Canonical Allele Identifier: CA2573055141

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 1180833
• ClinVar RCV Id: RCV001814562
• dbSNP Id: rs2148395370

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736123_153736133del , CM000685.2:g.153736123_153736133del	GRCh38
NC_000023.10:g.153001577_153001587del , CM000685.1:g.153001577_153001587del	GRCh37
NC_000023.9:g.152654771_152654781del	NCBI36
NG_009022.2:g.16256_16266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1093_1103del MANE Select	ENSP00000218104.3:p.Val365SerfsTer?
ENST00000218104.5:c.1093_1103del	ENSP00000218104.3:p.Val365SerfsTer?
ENST00000443684.2:n.96_106del
NM_000033.3:c.1093_1103del	NP_000024.2:p.Val365SerfsTer?
XR_938507.1:n.1509_1519del
XR_938507.2:n.1509_1519del
NM_000033.4:c.1093_1103del MANE Select	NP_000024.2:p.Val365SerfsTer?