Canonical Allele Identifier: CA2466457582

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743136_153743152delinsGGCCTGGGCTCAGTGGA , CM000685.2:g.153743136_153743152delinsGGCCTGGGCTCAGTGGA	GRCh38
NC_000023.10:g.153008590_153008606delinsGGCCTGGGCTCAGTGGA , CM000685.1:g.153008590_153008606delinsGGCCTGGGCTCAGTGGA	GRCh37
NC_000023.9:g.152661784_152661800delinsGGCCTGGGCTCAGTGGA	NCBI36
NG_009022.2:g.23269_23285delinsGGCCTGGGCTCAGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA MANE Select	ENSP00000218104.3:n.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA
ENST00000218104.5:c.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA	ENSP00000218104.3:n.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA
NM_000033.3:c.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA	NP_000024.2:n.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA
XR_938507.1:n.2337+65_2338-69delinsGGCCTGGGCTCAGTGGA
XR_938507.2:n.2337+65_2338-69delinsGGCCTGGGCTCAGTGGA
NM_000033.4:c.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA MANE Select	NP_000024.2:n.1865+65_1866-69delinsGGCCTGGGCTCAGTGGA