Canonical Allele Identifier: CA220206
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1624
ClinVar RCV Id: RCV000001691 RCV000077915 RCV003128226
dbSNP Id: rs387906249
ExAC: 17:7124241 AG / A
gnomAD v2: 17-7124241-AG-A
gnomAD v3: 17-7220922-AG-A
gnomAD v4: 17-7220922-AG-A
MyVariant Identifiers: chr17:g.7124243del (hg19) chr17:g.7124242del (hg19) chr17:g.7124243delG (hg19) chr17:g.7220924del (hg38) chr17:g.7220923del (hg38)
PubMed: PMID:7479827 PMID:23867825
ERepo: CA220206/MONDO:0008723/021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220924del , CM000679.2:g.7220924del GRCh38
NC_000017.10:g.7124243del , CM000679.1:g.7124243del GRCh37
NC_000017.9:g.7064967del NCBI36
NG_007975.1:g.6091del
NG_008391.2:g.4128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.343del
ENST00000322910.9:c.*298del
ENST00000350303.9:c.277del
ENST00000356839.9:c.343del
ENST00000543245.6:c.412del
ENST00000577191.5:n.420del
ENST00000577433.5:n.551del
ENST00000577857.5:n.293+94del
ENST00000579286.5:n.524del
ENST00000579886.2:c.202-21del ENSP00000463246.1:n.202-21del
ENST00000580365.1:n.74del
ENST00000581378.5:c.42del
ENST00000581562.5:n.390del
ENST00000582056.5:n.526del
ENST00000582166.1:n.324del
ENST00000583312.5:c.343del
ENST00000584103.5:c.376del ENSP00000465353.1:p.Glu126LysfsTer2
NM_000018.3:c.343del
NM_001033859.2:c.277del
NM_001270447.1:c.412del
NM_001270448.1:c.115del
XM_006721516.2:c.343del
XM_011523829.1:c.343del
XM_011523830.1:c.343del
XR_934021.1:n.450del
XR_934022.1:n.450del
XR_934023.1:n.450del
XM_006721516.3:c.343del
XM_011523829.2:c.343del
XM_011523830.2:c.343del
XM_024450741.1:c.343del
XR_934021.2:n.402del
XR_934022.2:n.402del
XR_934023.2:n.402del
NM_000018.4:c.343del
NM_001033859.3:c.277del
NM_001270447.2:c.412del
NM_001270448.2:c.115del
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