Canonical Allele Identifier: CA645161031

Gene: ABCD1

Linked Data

• dbSNP Id: rs1557054876
• gnomAD v2: X-153006175-TAGG-T
• gnomAD v3: X-153740721-TAGG-T
• gnomAD v4: X-153740721-TAGG-T
• MyVariant Identifiers: chrX:g.153006176_153006178del (hg19) ; chrX:g.153740722_153740724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153740725_153740727del , CM000685.2:g.153740725_153740727del	GRCh38
NC_000023.10:g.153006179_153006181del , CM000685.1:g.153006179_153006181del	GRCh37
NC_000023.9:g.152659373_152659375del	NCBI36
NG_009022.2:g.20858_20860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1780+6_1780+8del MANE Select	ENSP00000218104.3:n.1780+6_1780+8del
ENST00000218104.5:c.1780+6_1780+8del	ENSP00000218104.3:n.1780+6_1780+8del
NM_000033.3:c.1780+6_1780+8del	NP_000024.2:n.1780+6_1780+8del
XR_938507.1:n.2252+6_2252+8del
XR_938507.2:n.2252+6_2252+8del
NM_000033.4:c.1780+6_1780+8del MANE Select	NP_000024.2:n.1780+6_1780+8del