Canonical Allele Identifier: CA2695236855

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743304_153743305del , CM000685.2:g.153743304_153743305del	GRCh38
NC_000023.10:g.153008758_153008759del , CM000685.1:g.153008758_153008759del	GRCh37
NC_000023.9:g.152661952_152661953del	NCBI36
NG_009022.2:g.23437_23438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1949_1950del MANE Select	ENSP00000218104.3:p.Ala650GlyfsTer?
ENST00000218104.5:c.1949_1950del	ENSP00000218104.3:p.Ala650GlyfsTer?
NM_000033.3:c.1949_1950del	NP_000024.2:p.Ala650GlyfsTer?
XR_938507.1:n.2421_2422del
XR_938507.2:n.2421_2422del
NM_000033.4:c.1949_1950del MANE Select	NP_000024.2:p.Ala650GlyfsTer?