Canonical Allele Identifier: CA6831121
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs763573514
ExAC: 12:121176494 AGCTGG / A
gnomAD v2: 12-121176494-AGCTGG-A
gnomAD v3: 12-120738691-AGCTGG-A
gnomAD v4: 12-120738691-AGCTGG-A
MyVariant Identifiers: chr12:g.121176495_121176499del (hg19) chr12:g.120738692_120738696del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738694_120738698del , CM000674.2:g.120738694_120738698del GRCh38
NC_000012.11:g.121176497_121176501del , CM000674.1:g.121176497_121176501del GRCh37
NC_000012.10:g.119660880_119660884del NCBI36
NG_007991.1:g.17927_17931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.933+24_933+28del MANE Select ENSP00000242592.4:n.933+24_933+28del
ENST00000242592.8:c.933+24_933+28del ENSP00000242592.4:n.933+24_933+28del
ENST00000411593.2:c.921+24_921+28del ENSP00000401045.2:n.921+24_921+28del
NM_000017.3:c.933+24_933+28del NP_000008.1:n.933+24_933+28del
NM_001302554.1:c.921+24_921+28del NP_001289483.1:n.921+24_921+28del
NM_000017.4:c.933+24_933+28del MANE Select NP_000008.1:n.933+24_933+28del
NM_001302554.2:c.921+24_921+28del NP_001289483.1:n.921+24_921+28del
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