Canonical Allele Identifier: CA2697557232

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2700276
• ClinVar RCV Id: RCV003498223

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223210del , CM000679.2:g.7223210del	GRCh38
NC_000017.10:g.7126529del , CM000679.1:g.7126529del	GRCh37
NC_000017.9:g.7067253del	NCBI36
NG_007975.1:g.8377del
NG_008391.2:g.1842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1155del MANE Select	ENSP00000349297.5:p.Met386TrpfsTer7
ENST00000322910.9:c.*1110del	ENSP00000325395.5:n.*1110del
ENST00000350303.9:c.1089del	ENSP00000344152.5:p.Met364TrpfsTer7
ENST00000356839.9:c.1155del	ENSP00000349297.5:p.Met386TrpfsTer7
ENST00000542255.6:c.13del
ENST00000543245.6:c.1224del	ENSP00000438689.2:p.Met409TrpfsTer7
ENST00000578579.2:n.104del
ENST00000578824.5:n.571del
ENST00000579425.5:n.179del
ENST00000582379.1:n.806del
ENST00000583858.5:c.184del
ENST00000585203.6:n.363del
NM_000018.3:c.1155del	NP_000009.1:p.Met386TrpfsTer7
NM_001033859.2:c.1089del	NP_001029031.1:p.Met364TrpfsTer7
NM_001270447.1:c.1224del	NP_001257376.1:p.Met409TrpfsTer7
NM_001270448.1:c.927del	NP_001257377.1:p.Met310TrpfsTer7
XM_006721516.2:c.1155del	XP_006721579.2:p.Met386TrpfsTer7
XM_011523829.1:c.1155del	XP_011522131.1:p.Met386TrpfsTer7
XM_011523830.1:c.1155del	XP_011522132.1:p.Met386TrpfsTer7
XR_934021.1:n.1262del
XR_934022.1:n.1262del
XR_934023.1:n.1262del
XM_006721516.3:c.1155del	XP_006721579.2:p.Met386TrpfsTer7
XM_011523829.2:c.1155del	XP_011522131.1:p.Met386TrpfsTer7
XM_011523830.2:c.1155del	XP_011522132.1:p.Met386TrpfsTer7
XM_024450741.1:c.1155del	XP_024306509.1:p.Met386TrpfsTer7
XR_934021.2:n.1214del
XR_934022.2:n.1214del
XR_934023.2:n.1214del
NM_000018.4:c.1155del MANE Select	NP_000009.1:p.Met386TrpfsTer7
NM_001033859.3:c.1089del	NP_001029031.1:p.Met364TrpfsTer7
NM_001270447.2:c.1224del	NP_001257376.1:p.Met409TrpfsTer7
NM_001270448.2:c.927del	NP_001257377.1:p.Met310TrpfsTer7