Canonical Allele Identifier: CA2499224902

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1066547
• ClinVar RCV Id: RCV001377567
• dbSNP Id: rs2142980883
• gnomAD v4: 17-7222864-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222865_7222866del , CM000679.2:g.7222865_7222866del	GRCh38
NC_000017.10:g.7126184_7126185del , CM000679.1:g.7126184_7126185del	GRCh37
NC_000017.9:g.7066908_7066909del	NCBI36
NG_007975.1:g.8032_8033del
NG_008391.2:g.2185_2186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1077_1077+1del
ENST00000322910.9:c.*1032_*1032+1del
ENST00000350303.9:c.1011_1011+1del
ENST00000356839.9:c.1077_1077+1del
ENST00000543245.6:c.1146_1146+1del
ENST00000578824.5:n.226_227del
ENST00000582379.1:n.461_462del
ENST00000583858.5:c.106_106+1del
ENST00000585203.6:n.18_19del
NM_000018.3:c.1077_1077+1del
NM_001033859.2:c.1011_1011+1del
NM_001270447.1:c.1146_1146+1del
NM_001270448.1:c.849_849+1del
XM_006721516.2:c.1077_1077+1del
XM_011523829.1:c.1077_1077+1del
XM_011523830.1:c.1077_1077+1del
XR_934021.1:n.1184_1184+1del
XR_934022.1:n.1184_1184+1del
XR_934023.1:n.1184_1184+1del
XM_006721516.3:c.1077_1077+1del
XM_011523829.2:c.1077_1077+1del
XM_011523830.2:c.1077_1077+1del
XM_024450741.1:c.1077_1077+1del
XR_934021.2:n.1136_1136+1del
XR_934022.2:n.1136_1136+1del
XR_934023.2:n.1136_1136+1del
NM_000018.4:c.1077_1077+1del
NM_001033859.3:c.1011_1011+1del
NM_001270447.2:c.1146_1146+1del
NM_001270448.2:c.849_849+1del