Canonical Allele Identifier: CA2621366394
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120737102-C-CAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737102_120737103insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG , CM000674.2:g.120737102_120737103insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG GRCh38
NC_000012.11:g.121174905_121174906insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG , CM000674.1:g.121174905_121174906insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG GRCh37
NC_000012.10:g.119659288_119659289insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG NCBI36
NG_007991.1:g.16335_16336insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG MANE Select ENSP00000242592.4:p.Ala110SerfsTer23
ENST00000242592.8:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG ENSP00000242592.4:p.Ala110SerfsTer23
ENST00000411593.2:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG ENSP00000401045.2:p.Ala110SerfsTer23
ENST00000539690.1:n.439_440insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG
NM_000017.3:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG NP_000008.1:p.Ala110SerfsTer23
NM_001302554.1:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG NP_001289483.1:p.Ala110SerfsTer23
NM_000017.4:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG MANE Select NP_000008.1:p.Ala110SerfsTer23
NM_001302554.2:c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG NP_001289483.1:p.Ala110SerfsTer23
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