Canonical Allele Identifier: CA2635786395

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224652-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224653dup , CM000679.2:g.7224653dup	GRCh38
NC_000017.10:g.7127972dup , CM000679.1:g.7127972dup	GRCh37
NC_000017.9:g.7068696dup	NCBI36
NG_007975.1:g.9820dup
NG_008391.2:g.398dup
NG_033038.1:g.14892dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1690dup MANE Select	ENSP00000349297.5:p.Leu564ProfsTer28
ENST00000322910.9:c.*1645dup	ENSP00000325395.5:n.*1645dup
ENST00000350303.9:c.1624dup	ENSP00000344152.5:p.Leu542ProfsTer28
ENST00000356839.9:c.1690dup	ENSP00000349297.5:p.Leu564ProfsTer28
ENST00000542255.6:c.537-62dup
ENST00000543245.6:c.1759dup	ENSP00000438689.2:p.Leu587ProfsTer28
ENST00000578033.1:n.21dup
ENST00000578319.5:n.271dup
ENST00000578711.1:n.1149dup
ENST00000578809.5:n.262dup
ENST00000579425.5:n.806dup
ENST00000579546.1:c.425dup
ENST00000582450.1:n.287dup
ENST00000583074.5:n.300-62dup
ENST00000583848.5:c.65-9dup	ENSP00000466487.1:n.65-9dup
ENST00000583850.5:n.461dup
ENST00000583858.5:c.621dup
ENST00000585203.6:n.881dup
NM_000018.3:c.1690dup	NP_000009.1:p.Leu564ProfsTer28
NM_001033859.2:c.1624dup	NP_001029031.1:p.Leu542ProfsTer28
NM_001270447.1:c.1759dup	NP_001257376.1:p.Leu587ProfsTer28
NM_001270448.1:c.1462dup	NP_001257377.1:p.Leu488ProfsTer28
XM_006721516.2:c.1679-62dup	XP_006721579.2:n.1679-62dup
XM_011523829.1:c.1577-62dup	XP_011522131.1:n.1577-62dup
XM_011523830.1:c.1588dup	XP_011522132.1:p.Leu530ProfsTer28
XR_934021.1:n.1793dup
XR_934022.1:n.1699dup
XR_934023.1:n.1688-62dup
XM_006721516.3:c.1679-62dup	XP_006721579.2:n.1679-62dup
XM_011523829.2:c.1577-62dup	XP_011522131.1:n.1577-62dup
XM_011523830.2:c.1588dup	XP_011522132.1:p.Leu530ProfsTer28
XM_024450741.1:c.1678dup	XP_024306509.1:p.Leu560ProfsTer28
XR_934021.2:n.1745dup
XR_934022.2:n.1651dup
XR_934023.2:n.1640-62dup
NM_000018.4:c.1690dup MANE Select	NP_000009.1:p.Leu564ProfsTer28
NM_001033859.3:c.1624dup	NP_001029031.1:p.Leu542ProfsTer28
NM_001270447.2:c.1759dup	NP_001257376.1:p.Leu587ProfsTer28
NM_001270448.2:c.1462dup	NP_001257377.1:p.Leu488ProfsTer28