Canonical Allele Identifier: CA2695045206

Gene: ABCD1

Linked Data

• gnomAD v4: X-153736085-G-GCCCCCCACCCCACGGGGGCGTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153736087_153736088insCCCCACCCCACGGGGGCGTTTCCC , CM000685.2:g.153736087_153736088insCCCCACCCCACGGGGGCGTTTCCC	GRCh38
NC_000023.10:g.153001541_153001542insCCCCACCCCACGGGGGCGTTTCCC , CM000685.1:g.153001541_153001542insCCCCACCCCACGGGGGCGTTTCCC	GRCh37
NC_000023.9:g.152654735_152654736insCCCCACCCCACGGGGGCGTTTCCC	NCBI36
NG_009022.2:g.16220_16221insCCCCACCCCACGGGGGCGTTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCCC MANE Select	ENSP00000218104.3:n.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCC...
ENST00000218104.5:c.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCCC	ENSP00000218104.3:n.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCC...
ENST00000443684.2:n.85-25_85-24insCCCCACCCCACGGGGGCGTTTCCC
NM_000033.3:c.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCCC	NP_000024.2:n.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCCC
XR_938507.1:n.1498-25_1498-24insCCCCACCCCACGGGGGCGTTTCCC
XR_938507.2:n.1498-25_1498-24insCCCCACCCCACGGGGGCGTTTCCC
NM_000033.4:c.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCCC MANE Select	NP_000024.2:n.1082-25_1082-24insCCCCACCCCACGGGGGCGTTTCCC