Canonical Allele Identifier: CA6830834
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs777647514
ExAC: 12:121174948 CT / C
gnomAD v2: 12-121174948-CT-C
gnomAD v4: 12-120737145-CT-C
MyVariant Identifiers: chr12:g.121174949del (hg19) chr12:g.120737146del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737146del , CM000674.2:g.120737146del GRCh38
NC_000012.11:g.121174949del , CM000674.1:g.121174949del GRCh37
NC_000012.10:g.119659332del NCBI36
NG_007991.1:g.16379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.360+11del MANE Select ENSP00000242592.4:n.360+11del
ENST00000242592.8:c.360+11del ENSP00000242592.4:n.360+11del
ENST00000411593.2:c.360+11del ENSP00000401045.2:n.360+11del
ENST00000539690.1:n.483del
NM_000017.3:c.360+11del NP_000008.1:n.360+11del
NM_001302554.1:c.360+11del NP_001289483.1:n.360+11del
NM_000017.4:c.360+11del MANE Select NP_000008.1:n.360+11del
NM_001302554.2:c.360+11del NP_001289483.1:n.360+11del
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