Canonical Allele Identifier: CA740556431
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs527684035
gnomAD v3: 1-94418421-A-AGCCGCCGCCGCCGCCGCC
gnomAD v4: 1-94418421-A-AGCCGCCGCCGCCGCCGCC
MyVariant Identifiers: chr1:g.94883977_94883978insGCCGCCGCCGCCGCCGCC (hg19) chr1:g.94418421_94418422insGCCGCCGCCGCCGCCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418427_94418444dup , CM000663.2:g.94418427_94418444dup GRCh38
NC_000001.10:g.94883983_94884000dup , CM000663.1:g.94883983_94884000dup GRCh37
NC_000001.9:g.94656571_94656588dup NCBI36
NG_008865.1:g.5051_5068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-52_-35dup MANE Select ENSP00000359233.4:n.-52_-35dup
NM_001122674.1:c.-52_-35dup NP_001116146.1:n.-52_-35dup
NM_002858.3:c.-52_-35dup NP_002849.1:n.-52_-35dup
XM_006710802.2:c.-52_-35dup XP_006710865.2:n.-52_-35dup
NM_002858.4:c.-52_-35dup MANE Select NP_002849.1:n.-52_-35dup
NM_001122674.2:c.-52_-35dup NP_001116146.1:n.-52_-35dup
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