Canonical Allele Identifier: CA8338244

Gene: ACADVL

Linked Data

• dbSNP Id: rs780235712
• ExAC: 17:7128067 G / GGGGGCC
• gnomAD v2: 17-7128067-G-GGGGGCC
• gnomAD v4: 17-7224748-G-GGGGGCC
• MyVariant Identifiers: chr17:g.7128067_7128068insGGGGCC (hg19) ; chr17:g.7224748_7224749insGGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224749_7224754dup , CM000679.2:g.7224749_7224754dup	GRCh38
NC_000017.10:g.7128068_7128073dup , CM000679.1:g.7128068_7128073dup	GRCh37
NC_000017.9:g.7068792_7068797dup	NCBI36
NG_007975.1:g.9916_9921dup
NG_008391.2:g.297_302dup
NG_033038.1:g.14791_14796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+35_1751+40dup MANE Select	ENSP00000349297.5:n.1751+35_1751+40dup
ENST00000322910.9:c.*1706+35_*1706+40dup	ENSP00000325395.5:n.*1706+35_*1706+40dup
ENST00000350303.9:c.1685+35_1685+40dup	ENSP00000344152.5:n.1685+35_1685+40dup
ENST00000356839.9:c.1751+35_1751+40dup	ENSP00000349297.5:n.1751+35_1751+40dup
ENST00000542255.6:c.571_576dup
ENST00000543245.6:c.1820+35_1820+40dup	ENSP00000438689.2:n.1820+35_1820+40dup
ENST00000578033.1:n.117_122dup
ENST00000578319.5:n.332+35_332+40dup
ENST00000578711.1:n.1245_1250dup
ENST00000578809.5:n.323+35_323+40dup
ENST00000579425.5:n.867+35_867+40dup
ENST00000579546.1:c.486+35_486+40dup
ENST00000583074.5:n.334_339dup
ENST00000583848.5:c.117+35_117+40dup	ENSP00000466487.1:n.117+35_117+40dup
ENST00000583850.5:n.522+35_522+40dup
ENST00000583858.5:c.682+35_682+40dup
ENST00000585203.6:n.942+35_942+40dup
NM_000018.3:c.1751+35_1751+40dup	NP_000009.1:n.1751+35_1751+40dup
NM_001033859.2:c.1685+35_1685+40dup	NP_001029031.1:n.1685+35_1685+40dup
NM_001270447.1:c.1820+35_1820+40dup	NP_001257376.1:n.1820+35_1820+40dup
NM_001270448.1:c.1523+35_1523+40dup	NP_001257377.1:n.1523+35_1523+40dup
XM_006721516.2:c.1713_1718dup	XP_006721579.2:p.Pro573_Gly574insGlyPro
XM_011523829.1:c.1611_1616dup	XP_011522131.1:p.Pro539_Gly540insGlyPro
XM_011523830.1:c.1649+35_1649+40dup	XP_011522132.1:n.1649+35_1649+40dup
XR_934021.1:n.1854+35_1854+40dup
XR_934022.1:n.1760+35_1760+40dup
XR_934023.1:n.1722_1727dup
XM_006721516.3:c.1713_1718dup	XP_006721579.2:p.Pro573_Gly574insGlyPro
XM_011523829.2:c.1611_1616dup	XP_011522131.1:p.Pro539_Gly540insGlyPro
XM_011523830.2:c.1649+35_1649+40dup	XP_011522132.1:n.1649+35_1649+40dup
XM_024450741.1:c.1739+35_1739+40dup	XP_024306509.1:n.1739+35_1739+40dup
XR_934021.2:n.1806+35_1806+40dup
XR_934022.2:n.1712+35_1712+40dup
XR_934023.2:n.1674_1679dup
NM_000018.4:c.1751+35_1751+40dup MANE Select	NP_000009.1:n.1751+35_1751+40dup
NM_001033859.3:c.1685+35_1685+40dup	NP_001029031.1:n.1685+35_1685+40dup
NM_001270447.2:c.1820+35_1820+40dup	NP_001257376.1:n.1820+35_1820+40dup
NM_001270448.2:c.1523+35_1523+40dup	NP_001257377.1:n.1523+35_1523+40dup