Canonical Allele Identifier: CA2573154567

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1454349
• ClinVar RCV Id: RCV001941824
• dbSNP Id: rs2142982389

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223206_7223209dup , CM000679.2:g.7223206_7223209dup	GRCh38
NC_000017.10:g.7126525_7126528dup , CM000679.1:g.7126525_7126528dup	GRCh37
NC_000017.9:g.7067249_7067252dup	NCBI36
NG_007975.1:g.8373_8376dup
NG_008391.2:g.1843_1846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1151_1154dup MANE Select	ENSP00000349297.5:p.Met386ThrfsTer10
ENST00000322910.9:c.*1106_*1109dup	ENSP00000325395.5:n.*1106_*1109dup
ENST00000350303.9:c.1085_1088dup	ENSP00000344152.5:p.Met364ThrfsTer10
ENST00000356839.9:c.1151_1154dup	ENSP00000349297.5:p.Met386ThrfsTer10
ENST00000542255.6:c.9_12dup
ENST00000543245.6:c.1220_1223dup	ENSP00000438689.2:p.Met409ThrfsTer10
ENST00000578579.2:n.100_103dup
ENST00000578824.5:n.567_570dup
ENST00000579425.5:n.175_178dup
ENST00000582379.1:n.802_805dup
ENST00000583858.5:c.180_183dup
ENST00000585203.6:n.359_362dup
NM_000018.3:c.1151_1154dup	NP_000009.1:p.Met386ThrfsTer10
NM_001033859.2:c.1085_1088dup	NP_001029031.1:p.Met364ThrfsTer10
NM_001270447.1:c.1220_1223dup	NP_001257376.1:p.Met409ThrfsTer10
NM_001270448.1:c.923_926dup	NP_001257377.1:p.Met310ThrfsTer10
XM_006721516.2:c.1151_1154dup	XP_006721579.2:p.Met386ThrfsTer10
XM_011523829.1:c.1151_1154dup	XP_011522131.1:p.Met386ThrfsTer10
XM_011523830.1:c.1151_1154dup	XP_011522132.1:p.Met386ThrfsTer10
XR_934021.1:n.1258_1261dup
XR_934022.1:n.1258_1261dup
XR_934023.1:n.1258_1261dup
XM_006721516.3:c.1151_1154dup	XP_006721579.2:p.Met386ThrfsTer10
XM_011523829.2:c.1151_1154dup	XP_011522131.1:p.Met386ThrfsTer10
XM_011523830.2:c.1151_1154dup	XP_011522132.1:p.Met386ThrfsTer10
XM_024450741.1:c.1151_1154dup	XP_024306509.1:p.Met386ThrfsTer10
XR_934021.2:n.1210_1213dup
XR_934022.2:n.1210_1213dup
XR_934023.2:n.1210_1213dup
NM_000018.4:c.1151_1154dup MANE Select	NP_000009.1:p.Met386ThrfsTer10
NM_001033859.3:c.1085_1088dup	NP_001029031.1:p.Met364ThrfsTer10
NM_001270447.2:c.1220_1223dup	NP_001257376.1:p.Met409ThrfsTer10
NM_001270448.2:c.923_926dup	NP_001257377.1:p.Met310ThrfsTer10