Canonical Allele Identifier: CA2580101766

Gene: ABCD1

Linked Data

• ClinVar Variation Id: 2006524
• ClinVar RCV Id: RCV002837788

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736122_153736123insTTTGCAG , CM000685.2:g.153736122_153736123insTTTGCAG	GRCh38
NC_000023.10:g.153001576_153001577insTTTGCAG , CM000685.1:g.153001576_153001577insTTTGCAG	GRCh37
NC_000023.9:g.152654770_152654771insTTTGCAG	NCBI36
NG_009022.2:g.16255_16256insTTTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1092_1093insTTTGCAG MANE Select	ENSP00000218104.3:p.Val365PhefsTer?
ENST00000218104.5:c.1092_1093insTTTGCAG	ENSP00000218104.3:p.Val365PhefsTer?
ENST00000443684.2:n.95_96insTTTGCAG
NM_000033.3:c.1092_1093insTTTGCAG	NP_000024.2:p.Val365PhefsTer?
XR_938507.1:n.1508_1509insTTTGCAG
XR_938507.2:n.1508_1509insTTTGCAG
NM_000033.4:c.1092_1093insTTTGCAG MANE Select	NP_000024.2:p.Val365PhefsTer?