Canonical Allele Identifier: CA645160419

Gene: ABCD1

Linked Data

• dbSNP Id: rs1557054258
• gnomAD v2: X-153002177-CAG-C
• gnomAD v3: X-153736723-CAG-C
• gnomAD v4: X-153736723-CAG-C
• MyVariant Identifiers: chrX:g.153002178_153002179del (hg19) ; chrX:g.153736724_153736725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736728_153736729del , CM000685.2:g.153736728_153736729del	GRCh38
NC_000023.10:g.153002182_153002183del , CM000685.1:g.153002182_153002183del	GRCh37
NC_000023.9:g.152655376_152655377del	NCBI36
NG_009022.2:g.16861_16862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1393+215_1393+216del MANE Select	ENSP00000218104.3:n.1393+215_1393+216del
ENST00000218104.5:c.1393+215_1393+216del	ENSP00000218104.3:n.1393+215_1393+216del
ENST00000443684.2:n.396+215_396+216del
NM_000033.3:c.1393+215_1393+216del	NP_000024.2:n.1393+215_1393+216del
XR_938507.1:n.1810-128_1810-127del
XR_938507.2:n.1810-128_1810-127del
NM_000033.4:c.1393+215_1393+216del MANE Select	NP_000024.2:n.1393+215_1393+216del