Canonical Allele Identifier: CA2838206301

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222010dup , CM000679.2:g.7222010dup	GRCh38
NC_000017.10:g.7125329dup , CM000679.1:g.7125329dup	GRCh37
NC_000017.9:g.7066053dup	NCBI36
NG_007975.1:g.7177dup
NG_008391.2:g.3042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.681dup MANE Select	ENSP00000349297.5:p.Ile228HisfsTer25
ENST00000322910.9:c.*636dup	ENSP00000325395.5:n.*636dup
ENST00000350303.9:c.615dup	ENSP00000344152.5:p.Ile206HisfsTer25
ENST00000356839.9:c.681dup	ENSP00000349297.5:p.Ile228HisfsTer25
ENST00000543245.6:c.750dup	ENSP00000438689.2:p.Ile251HisfsTer25
ENST00000577191.5:n.758dup
ENST00000577857.5:n.497dup
ENST00000579286.5:n.862dup
ENST00000580365.1:n.412dup
ENST00000581378.5:c.399dup
ENST00000582379.1:n.65dup
ENST00000583760.1:n.463dup
NM_000018.3:c.681dup	NP_000009.1:p.Ile228HisfsTer25
NM_001033859.2:c.615dup	NP_001029031.1:p.Ile206HisfsTer25
NM_001270447.1:c.750dup	NP_001257376.1:p.Ile251HisfsTer25
NM_001270448.1:c.453dup	NP_001257377.1:p.Ile152HisfsTer25
XM_006721516.2:c.681dup	XP_006721579.2:p.Ile228HisfsTer25
XM_011523829.1:c.681dup	XP_011522131.1:p.Ile228HisfsTer25
XM_011523830.1:c.681dup	XP_011522132.1:p.Ile228HisfsTer25
XR_934021.1:n.788dup
XR_934022.1:n.788dup
XR_934023.1:n.788dup
XM_006721516.3:c.681dup	XP_006721579.2:p.Ile228HisfsTer25
XM_011523829.2:c.681dup	XP_011522131.1:p.Ile228HisfsTer25
XM_011523830.2:c.681dup	XP_011522132.1:p.Ile228HisfsTer25
XM_024450741.1:c.681dup	XP_024306509.1:p.Ile228HisfsTer25
XR_934021.2:n.740dup
XR_934022.2:n.740dup
XR_934023.2:n.740dup
NM_000018.4:c.681dup MANE Select	NP_000009.1:p.Ile228HisfsTer25
NM_001033859.3:c.615dup	NP_001029031.1:p.Ile206HisfsTer25
NM_001270447.2:c.750dup	NP_001257376.1:p.Ile251HisfsTer25
NM_001270448.2:c.453dup	NP_001257377.1:p.Ile152HisfsTer25