Canonical Allele Identifier: CA2635785398

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224608-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224608_7224609insGGG , CM000679.2:g.7224608_7224609insGGG	GRCh38
NC_000017.10:g.7127927_7127928insGGG , CM000679.1:g.7127927_7127928insGGG	GRCh37
NC_000017.9:g.7068651_7068652insGGG	NCBI36
NG_007975.1:g.9775_9776insGGG
NG_008391.2:g.442_443insCCC
NG_033038.1:g.14936_14937insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-34_1679-33insGGG MANE Select	ENSP00000349297.5:n.1679-34_1679-33insGGG
ENST00000322910.9:c.*1634-34_*1634-33insGGG	ENSP00000325395.5:n.*1634-34_*1634-33insGGG
ENST00000350303.9:c.1613-34_1613-33insGGG	ENSP00000344152.5:n.1613-34_1613-33insGGG
ENST00000356839.9:c.1679-34_1679-33insGGG	ENSP00000349297.5:n.1679-34_1679-33insGGG
ENST00000542255.6:c.536+56_536+57insGGG
ENST00000543245.6:c.1748-34_1748-33insGGG	ENSP00000438689.2:n.1748-34_1748-33insGGG
ENST00000578319.5:n.260-34_260-33insGGG
ENST00000578711.1:n.1104_1105insGGG
ENST00000578809.5:n.251-34_251-33insGGG
ENST00000579391.1:n.338_339insGGG
ENST00000579425.5:n.795-34_795-33insGGG
ENST00000579546.1:c.414-34_414-33insGGG
ENST00000582450.1:n.242_243insGGG
ENST00000583074.5:n.299+56_299+57insGGG
ENST00000583848.5:c.65-54_65-53insGGG	ENSP00000466487.1:n.65-54_65-53insGGG
ENST00000583850.5:n.450-34_450-33insGGG
ENST00000583858.5:c.610-34_610-33insGGG
ENST00000585203.6:n.870-34_870-33insGGG
NM_000018.3:c.1679-34_1679-33insGGG	NP_000009.1:n.1679-34_1679-33insGGG
NM_001033859.2:c.1613-34_1613-33insGGG	NP_001029031.1:n.1613-34_1613-33insGGG
NM_001270447.1:c.1748-34_1748-33insGGG	NP_001257376.1:n.1748-34_1748-33insGGG
NM_001270448.1:c.1451-34_1451-33insGGG	NP_001257377.1:n.1451-34_1451-33insGGG
XM_006721516.2:c.1678+56_1678+57insGGG	XP_006721579.2:n.1678+56_1678+57insGGG
XM_011523829.1:c.1576+56_1576+57insGGG	XP_011522131.1:n.1576+56_1576+57insGGG
XM_011523830.1:c.1577-34_1577-33insGGG	XP_011522132.1:n.1577-34_1577-33insGGG
XR_934021.1:n.1782-34_1782-33insGGG
XR_934022.1:n.1688-34_1688-33insGGG
XR_934023.1:n.1687+56_1687+57insGGG
XM_006721516.3:c.1678+56_1678+57insGGG	XP_006721579.2:n.1678+56_1678+57insGGG
XM_011523829.2:c.1576+56_1576+57insGGG	XP_011522131.1:n.1576+56_1576+57insGGG
XM_011523830.2:c.1577-34_1577-33insGGG	XP_011522132.1:n.1577-34_1577-33insGGG
XM_024450741.1:c.1667-34_1667-33insGGG	XP_024306509.1:n.1667-34_1667-33insGGG
XR_934021.2:n.1734-34_1734-33insGGG
XR_934022.2:n.1640-34_1640-33insGGG
XR_934023.2:n.1639+56_1639+57insGGG
NM_000018.4:c.1679-34_1679-33insGGG MANE Select	NP_000009.1:n.1679-34_1679-33insGGG
NM_001033859.3:c.1613-34_1613-33insGGG	NP_001029031.1:n.1613-34_1613-33insGGG
NM_001270447.2:c.1748-34_1748-33insGGG	NP_001257376.1:n.1748-34_1748-33insGGG
NM_001270448.2:c.1451-34_1451-33insGGG	NP_001257377.1:n.1451-34_1451-33insGGG