Canonical Allele Identifier: CA624861284

Gene: ACADVL

Linked Data

• gnomAD v2: 17-7126548-G-GT
• gnomAD v4: 17-7223229-G-GT
• MyVariant Identifiers: chr17:g.7126548_7126549insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223230dup , CM000679.2:g.7223230dup	GRCh38
NC_000017.10:g.7126549dup , CM000679.1:g.7126549dup	GRCh37
NC_000017.9:g.7067273dup	NCBI36
NG_007975.1:g.8397dup
NG_008391.2:g.1821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1175dup MANE Select	ENSP00000349297.5:p.Thr393AsnfsTer2
ENST00000322910.9:c.*1130dup	ENSP00000325395.5:n.*1130dup
ENST00000350303.9:c.1109dup	ENSP00000344152.5:p.Thr371AsnfsTer2
ENST00000356839.9:c.1175dup	ENSP00000349297.5:p.Thr393AsnfsTer2
ENST00000542255.6:c.33dup
ENST00000543245.6:c.1244dup	ENSP00000438689.2:p.Thr416AsnfsTer2
ENST00000578579.2:n.124dup
ENST00000578824.5:n.591dup
ENST00000579425.5:n.199dup
ENST00000579546.1:c.12dup
ENST00000582379.1:n.826dup
ENST00000583858.5:c.204dup
ENST00000585203.6:n.383dup
NM_000018.3:c.1175dup	NP_000009.1:p.Thr393AsnfsTer2
NM_001033859.2:c.1109dup	NP_001029031.1:p.Thr371AsnfsTer2
NM_001270447.1:c.1244dup	NP_001257376.1:p.Thr416AsnfsTer2
NM_001270448.1:c.947dup	NP_001257377.1:p.Thr317AsnfsTer2
XM_006721516.2:c.1175dup	XP_006721579.2:p.Thr393AsnfsTer2
XM_011523829.1:c.1175dup	XP_011522131.1:p.Thr393AsnfsTer2
XM_011523830.1:c.1175dup	XP_011522132.1:p.Thr393AsnfsTer2
XR_934021.1:n.1282dup
XR_934022.1:n.1282dup
XR_934023.1:n.1282dup
XM_006721516.3:c.1175dup	XP_006721579.2:p.Thr393AsnfsTer2
XM_011523829.2:c.1175dup	XP_011522131.1:p.Thr393AsnfsTer2
XM_011523830.2:c.1175dup	XP_011522132.1:p.Thr393AsnfsTer2
XM_024450741.1:c.1175dup	XP_024306509.1:p.Thr393AsnfsTer2
XR_934021.2:n.1234dup
XR_934022.2:n.1234dup
XR_934023.2:n.1234dup
NM_000018.4:c.1175dup MANE Select	NP_000009.1:p.Thr393AsnfsTer2
NM_001033859.3:c.1109dup	NP_001029031.1:p.Thr371AsnfsTer2
NM_001270447.2:c.1244dup	NP_001257376.1:p.Thr416AsnfsTer2
NM_001270448.2:c.947dup	NP_001257377.1:p.Thr317AsnfsTer2