Canonical Allele Identifier: CA2635785614

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224612-A-AACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224612_7224613insACCCCCC , CM000679.2:g.7224612_7224613insACCCCCC	GRCh38
NC_000017.10:g.7127931_7127932insACCCCCC , CM000679.1:g.7127931_7127932insACCCCCC	GRCh37
NC_000017.9:g.7068655_7068656insACCCCCC	NCBI36
NG_007975.1:g.9779_9780insACCCCCC
NG_008391.2:g.438_439insGGGGGGT
NG_033038.1:g.14932_14933insGGGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-30_1679-29insACCCCCC MANE Select	ENSP00000349297.5:n.1679-30_1679-29insACCCCCC
ENST00000322910.9:c.*1634-30_*1634-29insACCCCCC	ENSP00000325395.5:n.*1634-30_*1634-29insACCCCCC
ENST00000350303.9:c.1613-30_1613-29insACCCCCC	ENSP00000344152.5:n.1613-30_1613-29insACCCCCC
ENST00000356839.9:c.1679-30_1679-29insACCCCCC	ENSP00000349297.5:n.1679-30_1679-29insACCCCCC
ENST00000542255.6:c.536+60_536+61insACCCCCC
ENST00000543245.6:c.1748-30_1748-29insACCCCCC	ENSP00000438689.2:n.1748-30_1748-29insACCCCCC
ENST00000578319.5:n.260-30_260-29insACCCCCC
ENST00000578711.1:n.1108_1109insACCCCCC
ENST00000578809.5:n.251-30_251-29insACCCCCC
ENST00000579425.5:n.795-30_795-29insACCCCCC
ENST00000579546.1:c.414-30_414-29insACCCCCC
ENST00000582450.1:n.246_247insACCCCCC
ENST00000583074.5:n.299+60_299+61insACCCCCC
ENST00000583848.5:c.65-50_65-49insACCCCCC	ENSP00000466487.1:n.65-50_65-49insACCCCCC
ENST00000583850.5:n.450-30_450-29insACCCCCC
ENST00000583858.5:c.610-30_610-29insACCCCCC
ENST00000585203.6:n.870-30_870-29insACCCCCC
NM_000018.3:c.1679-30_1679-29insACCCCCC	NP_000009.1:n.1679-30_1679-29insACCCCCC
NM_001033859.2:c.1613-30_1613-29insACCCCCC	NP_001029031.1:n.1613-30_1613-29insACCCCCC
NM_001270447.1:c.1748-30_1748-29insACCCCCC	NP_001257376.1:n.1748-30_1748-29insACCCCCC
NM_001270448.1:c.1451-30_1451-29insACCCCCC	NP_001257377.1:n.1451-30_1451-29insACCCCCC
XM_006721516.2:c.1678+60_1678+61insACCCCCC	XP_006721579.2:n.1678+60_1678+61insACCCCCC
XM_011523829.1:c.1576+60_1576+61insACCCCCC	XP_011522131.1:n.1576+60_1576+61insACCCCCC
XM_011523830.1:c.1577-30_1577-29insACCCCCC	XP_011522132.1:n.1577-30_1577-29insACCCCCC
XR_934021.1:n.1782-30_1782-29insACCCCCC
XR_934022.1:n.1688-30_1688-29insACCCCCC
XR_934023.1:n.1687+60_1687+61insACCCCCC
XM_006721516.3:c.1678+60_1678+61insACCCCCC	XP_006721579.2:n.1678+60_1678+61insACCCCCC
XM_011523829.2:c.1576+60_1576+61insACCCCCC	XP_011522131.1:n.1576+60_1576+61insACCCCCC
XM_011523830.2:c.1577-30_1577-29insACCCCCC	XP_011522132.1:n.1577-30_1577-29insACCCCCC
XM_024450741.1:c.1667-30_1667-29insACCCCCC	XP_024306509.1:n.1667-30_1667-29insACCCCCC
XR_934021.2:n.1734-30_1734-29insACCCCCC
XR_934022.2:n.1640-30_1640-29insACCCCCC
XR_934023.2:n.1639+60_1639+61insACCCCCC
NM_000018.4:c.1679-30_1679-29insACCCCCC MANE Select	NP_000009.1:n.1679-30_1679-29insACCCCCC
NM_001033859.3:c.1613-30_1613-29insACCCCCC	NP_001029031.1:n.1613-30_1613-29insACCCCCC
NM_001270447.2:c.1748-30_1748-29insACCCCCC	NP_001257376.1:n.1748-30_1748-29insACCCCCC
NM_001270448.2:c.1451-30_1451-29insACCCCCC	NP_001257377.1:n.1451-30_1451-29insACCCCCC