Canonical Allele Identifier: CA337242851

Gene: ABCD1

Linked Data

• dbSNP Id: rs74315282

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743293_153743294dup , CM000685.2:g.153743293_153743294dup	GRCh38
NC_000023.10:g.153008747_153008748dup , CM000685.1:g.153008747_153008748dup	GRCh37
NC_000023.9:g.152661941_152661942dup	NCBI36
NG_009022.2:g.23426_23427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1938_1939dup MANE Select	ENSP00000218104.3:p.Ala647GlyfsTer?
ENST00000218104.5:c.1938_1939dup	ENSP00000218104.3:p.Ala647GlyfsTer?
NM_000033.3:c.1938_1939dup	NP_000024.2:p.Ala647GlyfsTer?
XR_938507.1:n.2410_2411dup
XR_938507.2:n.2410_2411dup
NM_000033.4:c.1938_1939dup MANE Select	NP_000024.2:p.Ala647GlyfsTer?