Canonical Allele Identifier: CA2579730046

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153737167_153737168del , CM000685.2:g.153737167_153737168del	GRCh38
NC_000023.10:g.153002621_153002622del , CM000685.1:g.153002621_153002622del	GRCh37
NC_000023.9:g.152655815_152655816del	NCBI36
NG_009022.2:g.17300_17301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218104.6:c.1404_1405del MANE Select	ENSP00000218104.3:p.Asp469CysfsTer?
ENST00000218104.5:c.1404_1405del	ENSP00000218104.3:p.Asp469CysfsTer?
ENST00000443684.2:n.407_408del
NM_000033.3:c.1404_1405del	NP_000024.2:p.Asp469CysfsTer?
XR_938507.1:n.1876_1877del
XR_938507.2:n.1876_1877del
NM_000033.4:c.1404_1405del MANE Select	NP_000024.2:p.Asp469CysfsTer?