Canonical Allele Identifier: CA2580094789

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2120862
• ClinVar RCV Id: RCV003043075

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223861_7223862dup , CM000679.2:g.7223861_7223862dup	GRCh38
NC_000017.10:g.7127180_7127181dup , CM000679.1:g.7127180_7127181dup	GRCh37
NC_000017.9:g.7067904_7067905dup	NCBI36
NG_007975.1:g.9028_9029dup
NG_008391.2:g.1190_1191dup
NG_033038.1:g.15684_15685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1318_1319dup MANE Select	ENSP00000349297.5:p.Met440IlefsTer5
ENST00000322910.9:c.*1273_*1274dup	ENSP00000325395.5:n.*1273_*1274dup
ENST00000350303.9:c.1252_1253dup	ENSP00000344152.5:p.Met418IlefsTer5
ENST00000356839.9:c.1318_1319dup	ENSP00000349297.5:p.Met440IlefsTer5
ENST00000542255.6:c.176_177dup
ENST00000543245.6:c.1387_1388dup	ENSP00000438689.2:p.Met463IlefsTer5
ENST00000578711.1:n.357_358dup
ENST00000579425.5:n.342_343dup
ENST00000579546.1:c.155_156dup
ENST00000583074.5:n.37_38dup
ENST00000583850.5:n.93_94dup
ENST00000583858.5:c.347_348dup
ENST00000585203.6:n.523+3_523+4dup
NM_000018.3:c.1318_1319dup	NP_000009.1:p.Met440IlefsTer5
NM_001033859.2:c.1252_1253dup	NP_001029031.1:p.Met418IlefsTer5
NM_001270447.1:c.1387_1388dup	NP_001257376.1:p.Met463IlefsTer5
NM_001270448.1:c.1090_1091dup	NP_001257377.1:p.Met364IlefsTer5
XM_006721516.2:c.1318_1319dup	XP_006721579.2:p.Met440IlefsTer5
XM_011523829.1:c.1318_1319dup	XP_011522131.1:p.Met440IlefsTer5
XM_011523830.1:c.1318_1319dup	XP_011522132.1:p.Met440IlefsTer5
XR_934021.1:n.1425_1426dup
XR_934022.1:n.1425_1426dup
XR_934023.1:n.1425_1426dup
XM_006721516.3:c.1318_1319dup	XP_006721579.2:p.Met440IlefsTer5
XM_011523829.2:c.1318_1319dup	XP_011522131.1:p.Met440IlefsTer5
XM_011523830.2:c.1318_1319dup	XP_011522132.1:p.Met440IlefsTer5
XM_024450741.1:c.1318_1319dup	XP_024306509.1:p.Met440IlefsTer5
XR_934021.2:n.1377_1378dup
XR_934022.2:n.1377_1378dup
XR_934023.2:n.1377_1378dup
NM_000018.4:c.1318_1319dup MANE Select	NP_000009.1:p.Met440IlefsTer5
NM_001033859.3:c.1252_1253dup	NP_001029031.1:p.Met418IlefsTer5
NM_001270447.2:c.1387_1388dup	NP_001257376.1:p.Met463IlefsTer5
NM_001270448.2:c.1090_1091dup	NP_001257377.1:p.Met364IlefsTer5