Canonical Allele Identifier: CA1139665149

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 971356
• ClinVar RCV Id: RCV001247120
• dbSNP Id: rs2071340733
• ERepo: CA1139665149/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223731del , CM000679.2:g.7223731del	GRCh38
NC_000017.10:g.7127050del , CM000679.1:g.7127050del	GRCh37
NC_000017.9:g.7067774del	NCBI36
NG_007975.1:g.8898del
NG_008391.2:g.1321del
NG_033038.1:g.15815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1269+1del
ENST00000322910.9:c.*1224+1del
ENST00000350303.9:c.1203+1del
ENST00000356839.9:c.1269+1del
ENST00000542255.6:c.127+1del
ENST00000543245.6:c.1338+1del
ENST00000578579.2:n.440+1del
ENST00000578711.1:n.227del
ENST00000578824.5:n.685+1del
ENST00000579425.5:n.293+1del
ENST00000579546.1:c.106+1del
ENST00000583850.5:n.44+1del
ENST00000583858.5:c.298+1del
ENST00000585203.6:n.477+1del
NM_000018.3:c.1269+1del
NM_001033859.2:c.1203+1del
NM_001270447.1:c.1338+1del
NM_001270448.1:c.1041+1del
XM_006721516.2:c.1269+1del
XM_011523829.1:c.1269+1del
XM_011523830.1:c.1269+1del
XR_934021.1:n.1376+1del
XR_934022.1:n.1376+1del
XR_934023.1:n.1376+1del
XM_006721516.3:c.1269+1del
XM_011523829.2:c.1269+1del
XM_011523830.2:c.1269+1del
XM_024450741.1:c.1269+1del
XR_934021.2:n.1328+1del
XR_934022.2:n.1328+1del
XR_934023.2:n.1328+1del
NM_000018.4:c.1269+1del
NM_001033859.3:c.1203+1del
NM_001270447.2:c.1338+1del
NM_001270448.2:c.1041+1del