Canonical Allele Identifier: CA2635785328

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224607-C-CGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224607_7224608insGGGGG , CM000679.2:g.7224607_7224608insGGGGG	GRCh38
NC_000017.10:g.7127926_7127927insGGGGG , CM000679.1:g.7127926_7127927insGGGGG	GRCh37
NC_000017.9:g.7068650_7068651insGGGGG	NCBI36
NG_007975.1:g.9774_9775insGGGGG
NG_008391.2:g.443_444insCCCCC
NG_033038.1:g.14937_14938insCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-35_1679-34insGGGGG MANE Select	ENSP00000349297.5:n.1679-35_1679-34insGGGGG
ENST00000322910.9:c.*1634-35_*1634-34insGGGGG	ENSP00000325395.5:n.*1634-35_*1634-34insGGGGG
ENST00000350303.9:c.1613-35_1613-34insGGGGG	ENSP00000344152.5:n.1613-35_1613-34insGGGGG
ENST00000356839.9:c.1679-35_1679-34insGGGGG	ENSP00000349297.5:n.1679-35_1679-34insGGGGG
ENST00000542255.6:c.536+55_536+56insGGGGG
ENST00000543245.6:c.1748-35_1748-34insGGGGG	ENSP00000438689.2:n.1748-35_1748-34insGGGGG
ENST00000578319.5:n.260-35_260-34insGGGGG
ENST00000578711.1:n.1103_1104insGGGGG
ENST00000578809.5:n.251-35_251-34insGGGGG
ENST00000579391.1:n.337_338insGGGGG
ENST00000579425.5:n.795-35_795-34insGGGGG
ENST00000579546.1:c.414-35_414-34insGGGGG
ENST00000582450.1:n.241_242insGGGGG
ENST00000583074.5:n.299+55_299+56insGGGGG
ENST00000583848.5:c.65-55_65-54insGGGGG	ENSP00000466487.1:n.65-55_65-54insGGGGG
ENST00000583850.5:n.450-35_450-34insGGGGG
ENST00000583858.5:c.610-35_610-34insGGGGG
ENST00000585203.6:n.870-35_870-34insGGGGG
NM_000018.3:c.1679-35_1679-34insGGGGG	NP_000009.1:n.1679-35_1679-34insGGGGG
NM_001033859.2:c.1613-35_1613-34insGGGGG	NP_001029031.1:n.1613-35_1613-34insGGGGG
NM_001270447.1:c.1748-35_1748-34insGGGGG	NP_001257376.1:n.1748-35_1748-34insGGGGG
NM_001270448.1:c.1451-35_1451-34insGGGGG	NP_001257377.1:n.1451-35_1451-34insGGGGG
XM_006721516.2:c.1678+55_1678+56insGGGGG	XP_006721579.2:n.1678+55_1678+56insGGGGG
XM_011523829.1:c.1576+55_1576+56insGGGGG	XP_011522131.1:n.1576+55_1576+56insGGGGG
XM_011523830.1:c.1577-35_1577-34insGGGGG	XP_011522132.1:n.1577-35_1577-34insGGGGG
XR_934021.1:n.1782-35_1782-34insGGGGG
XR_934022.1:n.1688-35_1688-34insGGGGG
XR_934023.1:n.1687+55_1687+56insGGGGG
XM_006721516.3:c.1678+55_1678+56insGGGGG	XP_006721579.2:n.1678+55_1678+56insGGGGG
XM_011523829.2:c.1576+55_1576+56insGGGGG	XP_011522131.1:n.1576+55_1576+56insGGGGG
XM_011523830.2:c.1577-35_1577-34insGGGGG	XP_011522132.1:n.1577-35_1577-34insGGGGG
XM_024450741.1:c.1667-35_1667-34insGGGGG	XP_024306509.1:n.1667-35_1667-34insGGGGG
XR_934021.2:n.1734-35_1734-34insGGGGG
XR_934022.2:n.1640-35_1640-34insGGGGG
XR_934023.2:n.1639+55_1639+56insGGGGG
NM_000018.4:c.1679-35_1679-34insGGGGG MANE Select	NP_000009.1:n.1679-35_1679-34insGGGGG
NM_001033859.3:c.1613-35_1613-34insGGGGG	NP_001029031.1:n.1613-35_1613-34insGGGGG
NM_001270447.2:c.1748-35_1748-34insGGGGG	NP_001257376.1:n.1748-35_1748-34insGGGGG
NM_001270448.2:c.1451-35_1451-34insGGGGG	NP_001257377.1:n.1451-35_1451-34insGGGGG