Canonical Allele Identifier: CA2635785463

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224610-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224612_7224613dup , CM000679.2:g.7224612_7224613dup	GRCh38
NC_000017.10:g.7127931_7127932dup , CM000679.1:g.7127931_7127932dup	GRCh37
NC_000017.9:g.7068655_7068656dup	NCBI36
NG_007975.1:g.9779_9780dup
NG_008391.2:g.439_440dup
NG_033038.1:g.14933_14934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-30_1679-29dup MANE Select	ENSP00000349297.5:n.1679-30_1679-29dup
ENST00000322910.9:c.*1634-30_*1634-29dup	ENSP00000325395.5:n.*1634-30_*1634-29dup
ENST00000350303.9:c.1613-30_1613-29dup	ENSP00000344152.5:n.1613-30_1613-29dup
ENST00000356839.9:c.1679-30_1679-29dup	ENSP00000349297.5:n.1679-30_1679-29dup
ENST00000542255.6:c.536+60_536+61dup
ENST00000543245.6:c.1748-30_1748-29dup	ENSP00000438689.2:n.1748-30_1748-29dup
ENST00000578319.5:n.260-30_260-29dup
ENST00000578711.1:n.1108_1109dup
ENST00000578809.5:n.251-30_251-29dup
ENST00000579425.5:n.795-30_795-29dup
ENST00000579546.1:c.414-30_414-29dup
ENST00000582450.1:n.246_247dup
ENST00000583074.5:n.299+60_299+61dup
ENST00000583848.5:c.65-50_65-49dup	ENSP00000466487.1:n.65-50_65-49dup
ENST00000583850.5:n.450-30_450-29dup
ENST00000583858.5:c.610-30_610-29dup
ENST00000585203.6:n.870-30_870-29dup
NM_000018.3:c.1679-30_1679-29dup	NP_000009.1:n.1679-30_1679-29dup
NM_001033859.2:c.1613-30_1613-29dup	NP_001029031.1:n.1613-30_1613-29dup
NM_001270447.1:c.1748-30_1748-29dup	NP_001257376.1:n.1748-30_1748-29dup
NM_001270448.1:c.1451-30_1451-29dup	NP_001257377.1:n.1451-30_1451-29dup
XM_006721516.2:c.1678+60_1678+61dup	XP_006721579.2:n.1678+60_1678+61dup
XM_011523829.1:c.1576+60_1576+61dup	XP_011522131.1:n.1576+60_1576+61dup
XM_011523830.1:c.1577-30_1577-29dup	XP_011522132.1:n.1577-30_1577-29dup
XR_934021.1:n.1782-30_1782-29dup
XR_934022.1:n.1688-30_1688-29dup
XR_934023.1:n.1687+60_1687+61dup
XM_006721516.3:c.1678+60_1678+61dup	XP_006721579.2:n.1678+60_1678+61dup
XM_011523829.2:c.1576+60_1576+61dup	XP_011522131.1:n.1576+60_1576+61dup
XM_011523830.2:c.1577-30_1577-29dup	XP_011522132.1:n.1577-30_1577-29dup
XM_024450741.1:c.1667-30_1667-29dup	XP_024306509.1:n.1667-30_1667-29dup
XR_934021.2:n.1734-30_1734-29dup
XR_934022.2:n.1640-30_1640-29dup
XR_934023.2:n.1639+60_1639+61dup
NM_000018.4:c.1679-30_1679-29dup MANE Select	NP_000009.1:n.1679-30_1679-29dup
NM_001033859.3:c.1613-30_1613-29dup	NP_001029031.1:n.1613-30_1613-29dup
NM_001270447.2:c.1748-30_1748-29dup	NP_001257376.1:n.1748-30_1748-29dup
NM_001270448.2:c.1451-30_1451-29dup	NP_001257377.1:n.1451-30_1451-29dup