Canonical Allele Identifier: CA1138521749
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2091771461
gnomAD v3: X-153742860-C-CT
gnomAD v4: X-153742860-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742860_153742861insT , CM000685.2:g.153742860_153742861insT GRCh38
NC_000023.10:g.153008314_153008315insT , CM000685.1:g.153008314_153008315insT GRCh37
NC_000023.9:g.152661508_152661509insT NCBI36
NG_009022.2:g.22993_22994insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1781-127_1781-126insT MANE Select ENSP00000218104.3:n.1781-127_1781-126insT
ENST00000218104.5:c.1781-127_1781-126insT ENSP00000218104.3:n.1781-127_1781-126insT
NM_000033.3:c.1781-127_1781-126insT NP_000024.2:n.1781-127_1781-126insT
XR_938507.1:n.2253-127_2253-126insT
XR_938507.2:n.2253-127_2253-126insT
NM_000033.4:c.1781-127_1781-126insT MANE Select NP_000024.2:n.1781-127_1781-126insT
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