Canonical Allele Identifier: CA1139662938
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 970024
ClinVar RCV Id: RCV001245509

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737096_120737097delinsCA , CM000674.2:g.120737096_120737097delinsCA GRCh38
NC_000012.11:g.121174899_121174900delinsCA , CM000674.1:g.121174899_121174900delinsCA GRCh37
NC_000012.10:g.119659282_119659283delinsCA NCBI36
NG_007991.1:g.16329_16330delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.321_322delinsCA MANE Select ENSP00000242592.4:p.Gly108Ser
ENST00000242592.8:c.321_322delinsCA ENSP00000242592.4:p.Gly108Ser
ENST00000411593.2:c.321_322delinsCA ENSP00000401045.2:p.Gly108Ser
ENST00000539690.1:n.433_434delinsCA
NM_000017.3:c.321_322delinsCA NP_000008.1:p.Gly108Ser
NM_001302554.1:c.321_322delinsCA NP_001289483.1:p.Gly108Ser
NM_000017.4:c.321_322delinsCA MANE Select NP_000008.1:p.Gly108Ser
NM_001302554.2:c.321_322delinsCA NP_001289483.1:p.Gly108Ser