Canonical Allele Identifier: CA645590091
Gene: ACADS HGNC NCBI

Linked Data

COSMIC: COSM1322708
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739327_120739357del , CM000674.2:g.120739327_120739357del GRCh38
NC_000012.11:g.121177130_121177160del , CM000674.1:g.121177130_121177160del GRCh37
NC_000012.10:g.119661513_119661543del NCBI36
NG_007991.1:g.18560_18590del

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1118_1148del MANE Select ENSP00000242592.4:p.Val373AlafsTer19
ENST00000242592.8:c.1118_1148del ENSP00000242592.4:p.Val373AlafsTer19
ENST00000411593.2:c.1106_1136del ENSP00000401045.2:p.Val369AlafsTer19
NM_000017.3:c.1118_1148del NP_000008.1:p.Val373AlafsTer19
NM_001302554.1:c.1106_1136del NP_001289483.1:p.Val369AlafsTer19
NM_000017.4:c.1118_1148del MANE Select NP_000008.1:p.Val373AlafsTer19
NM_001302554.2:c.1106_1136del NP_001289483.1:p.Val369AlafsTer19
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