Canonical Allele Identifier: CA2621368912
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120738723-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738727_120738728del , CM000674.2:g.120738727_120738728del GRCh38
NC_000012.11:g.121176530_121176531del , CM000674.1:g.121176530_121176531del GRCh37
NC_000012.10:g.119660913_119660914del NCBI36
NG_007991.1:g.17960_17961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.933+57_933+58del MANE Select ENSP00000242592.4:n.933+57_933+58del
ENST00000242592.8:c.933+57_933+58del ENSP00000242592.4:n.933+57_933+58del
ENST00000411593.2:c.921+57_921+58del ENSP00000401045.2:n.921+57_921+58del
NM_000017.3:c.933+57_933+58del NP_000008.1:n.933+57_933+58del
NM_001302554.1:c.921+57_921+58del NP_001289483.1:n.921+57_921+58del
NM_000017.4:c.933+57_933+58del MANE Select NP_000008.1:n.933+57_933+58del
NM_001302554.2:c.921+57_921+58del NP_001289483.1:n.921+57_921+58del
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