Canonical Allele Identifier: CA952535122
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v3: 12-120739374-G-GCC
gnomAD v4: 12-120739374-G-GCC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739374_120739375insCC , CM000674.2:g.120739374_120739375insCC GRCh38
NC_000012.11:g.121177177_121177178insCC , CM000674.1:g.121177177_121177178insCC GRCh37
NC_000012.10:g.119661560_119661561insCC NCBI36
NG_007991.1:g.18607_18608insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1165_1166insCC MANE Select ENSP00000242592.4:p.Glu389AlafsTer14
ENST00000242592.8:c.1165_1166insCC ENSP00000242592.4:p.Glu389AlafsTer14
ENST00000411593.2:c.1153_1154insCC ENSP00000401045.2:p.Glu385AlafsTer14
NM_000017.3:c.1165_1166insCC NP_000008.1:p.Glu389AlafsTer14
NM_001302554.1:c.1153_1154insCC NP_001289483.1:p.Glu385AlafsTer14
NM_000017.4:c.1165_1166insCC MANE Select NP_000008.1:p.Glu389AlafsTer14
NM_001302554.2:c.1153_1154insCC NP_001289483.1:p.Glu385AlafsTer14
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Search 100 bp 3'