Canonical Allele Identifier: CA2695237417

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153737185_153737189del , CM000685.2:g.153737185_153737189del	GRCh38
NC_000023.10:g.153002639_153002643del , CM000685.1:g.153002639_153002643del	GRCh37
NC_000023.9:g.152655833_152655837del	NCBI36
NG_009022.2:g.17318_17322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1422_1426del MANE Select	ENSP00000218104.3:p.Ile474MetfsTer?
ENST00000218104.5:c.1422_1426del	ENSP00000218104.3:p.Ile474MetfsTer?
ENST00000443684.2:n.425_429del
NM_000033.3:c.1422_1426del	NP_000024.2:p.Ile474MetfsTer?
XR_938507.1:n.1894_1898del
XR_938507.2:n.1894_1898del
NM_000033.4:c.1422_1426del MANE Select	NP_000024.2:p.Ile474MetfsTer?