Canonical Allele Identifier: CA524392927
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs527684035
gnomAD v2: 1-94883977-A-AGCCGCCGCC
gnomAD v3: 1-94418421-A-AGCCGCCGCC
gnomAD v4: 1-94418421-A-AGCCGCCGCC
MyVariant Identifiers: chr1:g.94883980_94883981insGCCGCCGCC (hg19) chr1:g.94883977_94883978insGCCGCCGCC (hg19) chr1:g.94418424_94418425insGCCGCCGCC (hg38) chr1:g.94418421_94418422insGCCGCCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418436_94418444dup , CM000663.2:g.94418436_94418444dup GRCh38
NC_000001.10:g.94883992_94884000dup , CM000663.1:g.94883992_94884000dup GRCh37
NC_000001.9:g.94656580_94656588dup NCBI36
NG_008865.1:g.5060_5068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-43_-35dup MANE Select ENSP00000359233.4:n.-43_-35dup
NM_001122674.1:c.-43_-35dup NP_001116146.1:n.-43_-35dup
NM_002858.3:c.-43_-35dup NP_002849.1:n.-43_-35dup
XM_006710802.2:c.-43_-35dup XP_006710865.2:n.-43_-35dup
NM_002858.4:c.-43_-35dup MANE Select NP_002849.1:n.-43_-35dup
NM_001122674.2:c.-43_-35dup NP_001116146.1:n.-43_-35dup
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