Canonical Allele Identifier: CA1004589032
Gene: ABCD3 HGNC NCBI

Linked Data

gnomAD v3: 1-94418444-CGTCCCCT-C
gnomAD v4: 1-94418444-CGTCCCCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418445_94418451del , CM000663.2:g.94418445_94418451del GRCh38
NC_000001.10:g.94884001_94884007del , CM000663.1:g.94884001_94884007del GRCh37
NC_000001.9:g.94656589_94656595del NCBI36
NG_008865.1:g.5069_5075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-34_-28del MANE Select ENSP00000359233.4:n.-34_-28del
NM_001122674.1:c.-34_-28del NP_001116146.1:n.-34_-28del
NM_002858.3:c.-34_-28del NP_002849.1:n.-34_-28del
XM_006710802.2:c.-34_-28del XP_006710865.2:n.-34_-28del
NM_002858.4:c.-34_-28del MANE Select NP_002849.1:n.-34_-28del
NM_001122674.2:c.-34_-28del NP_001116146.1:n.-34_-28del
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