Canonical Allele Identifier: CA2580101781
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2029863
ClinVar RCV Id: RCV002881036
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736521_153736522delinsGT , CM000685.2:g.153736521_153736522delinsGT GRCh38
NC_000023.10:g.153001975_153001976delinsGT , CM000685.1:g.153001975_153001976delinsGT GRCh37
NC_000023.9:g.152655169_152655170delinsGT NCBI36
NG_009022.2:g.16654_16655delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1393+8_1393+9delinsGT MANE Select ENSP00000218104.3:n.1393+8_1393+9delinsGT
ENST00000218104.5:c.1393+8_1393+9delinsGT ENSP00000218104.3:n.1393+8_1393+9delinsGT
ENST00000443684.2:n.396+8_396+9delinsGT
NM_000033.3:c.1393+8_1393+9delinsGT NP_000024.2:n.1393+8_1393+9delinsGT
XR_938507.1:n.1809+8_1809+9delinsGT
XR_938507.2:n.1809+8_1809+9delinsGT
NM_000033.4:c.1393+8_1393+9delinsGT MANE Select NP_000024.2:n.1393+8_1393+9delinsGT
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