Canonical Allele Identifier: CA2695236854

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743266_153743275del , CM000685.2:g.153743266_153743275del	GRCh38
NC_000023.10:g.153008720_153008729del , CM000685.1:g.153008720_153008729del	GRCh37
NC_000023.9:g.152661914_152661923del	NCBI36
NG_009022.2:g.23399_23408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1911_1920del MANE Select	ENSP00000218104.3:p.Ile637MetfsTer?
ENST00000218104.5:c.1911_1920del	ENSP00000218104.3:p.Ile637MetfsTer?
NM_000033.3:c.1911_1920del	NP_000024.2:p.Ile637MetfsTer?
XR_938507.1:n.2383_2392del
XR_938507.2:n.2383_2392del
NM_000033.4:c.1911_1920del MANE Select	NP_000024.2:p.Ile637MetfsTer?