Canonical Allele Identifier: CA740556427
Gene: ABCD3 HGNC NCBI

Linked Data

dbSNP Id: rs527684035
gnomAD v3: 1-94418421-AGCCGCCGCCGCC-A
gnomAD v4: 1-94418421-AGCCGCCGCCGCC-A
MyVariant Identifiers: chr1:g.94883978_94883989del (hg19) chr1:g.94418422_94418433del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94418433_94418444del , CM000663.2:g.94418433_94418444del GRCh38
NC_000001.10:g.94883989_94884000del , CM000663.1:g.94883989_94884000del GRCh37
NC_000001.9:g.94656577_94656588del NCBI36
NG_008865.1:g.5057_5068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370214.9:c.-46_-35del MANE Select ENSP00000359233.4:n.-46_-35del
NM_001122674.1:c.-46_-35del NP_001116146.1:n.-46_-35del
NM_002858.3:c.-46_-35del NP_002849.1:n.-46_-35del
XM_006710802.2:c.-46_-35del XP_006710865.2:n.-46_-35del
NM_002858.4:c.-46_-35del MANE Select NP_002849.1:n.-46_-35del
NM_001122674.2:c.-46_-35del NP_001116146.1:n.-46_-35del
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