Canonical Allele Identifier: CA2573159316

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 1408476
• ClinVar RCV Id: RCV001909983
• dbSNP Id: rs2148395658

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736444_153736447dup , CM000685.2:g.153736444_153736447dup	GRCh38
NC_000023.10:g.153001898_153001901dup , CM000685.1:g.153001898_153001901dup	GRCh37
NC_000023.9:g.152655092_152655095dup	NCBI36
NG_009022.2:g.16577_16580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1324_1327dup MANE Select	ENSP00000218104.3:p.Ala443GlyfsTer?
ENST00000218104.5:c.1324_1327dup	ENSP00000218104.3:p.Ala443GlyfsTer?
ENST00000443684.2:n.327_330dup
NM_000033.3:c.1324_1327dup	NP_000024.2:p.Ala443GlyfsTer?
XR_938507.1:n.1740_1743dup
XR_938507.2:n.1740_1743dup
NM_000033.4:c.1324_1327dup MANE Select	NP_000024.2:p.Ala443GlyfsTer?