Canonical Allele Identifier: CA981154958

Gene: ACADVL

Linked Data

• gnomAD v3: 17-7224606-G-GCCCCCCCCCCCCCCCCCCCC
• gnomAD v4: 17-7224606-G-GCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224611_7224612insCCCCCCCCCCCCCCCCCCCC , CM000679.2:g.7224611_7224612insCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000017.10:g.7127930_7127931insCCCCCCCCCCCCCCCCCCCC , CM000679.1:g.7127930_7127931insCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000017.9:g.7068654_7068655insCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_007975.1:g.9778_9779insCCCCCCCCCCCCCCCCCCCC
NG_008391.2:g.444_445insGGGGGGGGGGGGGGGGGGGG
NG_033038.1:g.14938_14939insGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000349297.5:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC
ENST00000322910.9:c.*1634-31_*1634-30insCCCCCCCCCCCCCCCCCCCC	ENSP00000325395.5:n.*1634-31_*1634-30insCCCCCCCCCCCCCCCCCCCC
ENST00000350303.9:c.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCC	ENSP00000344152.5:n.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCC
ENST00000356839.9:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC	ENSP00000349297.5:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC
ENST00000542255.6:c.536+59_536+60insCCCCCCCCCCCCCCCCCCCC
ENST00000543245.6:c.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCC	ENSP00000438689.2:n.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCC
ENST00000578319.5:n.260-31_260-30insCCCCCCCCCCCCCCCCCCCC
ENST00000578711.1:n.1107_1108insCCCCCCCCCCCCCCCCCCCC
ENST00000578809.5:n.251-31_251-30insCCCCCCCCCCCCCCCCCCCC
ENST00000579425.5:n.795-31_795-30insCCCCCCCCCCCCCCCCCCCC
ENST00000579546.1:c.414-31_414-30insCCCCCCCCCCCCCCCCCCCC
ENST00000582450.1:n.245_246insCCCCCCCCCCCCCCCCCCCC
ENST00000583074.5:n.299+59_299+60insCCCCCCCCCCCCCCCCCCCC
ENST00000583848.5:c.65-51_65-50insCCCCCCCCCCCCCCCCCCCC	ENSP00000466487.1:n.65-51_65-50insCCCCCCCCCCCCCCCCCCCC
ENST00000583850.5:n.450-31_450-30insCCCCCCCCCCCCCCCCCCCC
ENST00000583858.5:c.610-31_610-30insCCCCCCCCCCCCCCCCCCCC
ENST00000585203.6:n.870-31_870-30insCCCCCCCCCCCCCCCCCCCC
NM_000018.3:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC	NP_000009.1:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC
NM_001033859.2:c.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCC	NP_001029031.1:n.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCC
NM_001270447.1:c.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCC	NP_001257376.1:n.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCC
NM_001270448.1:c.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCC	NP_001257377.1:n.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCC
XM_006721516.2:c.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCC	XP_006721579.2:n.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCC
XM_011523829.1:c.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCC	XP_011522131.1:n.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCC
XM_011523830.1:c.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCC	XP_011522132.1:n.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCC
XR_934021.1:n.1782-31_1782-30insCCCCCCCCCCCCCCCCCCCC
XR_934022.1:n.1688-31_1688-30insCCCCCCCCCCCCCCCCCCCC
XR_934023.1:n.1687+59_1687+60insCCCCCCCCCCCCCCCCCCCC
XM_006721516.3:c.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCC	XP_006721579.2:n.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCC
XM_011523829.2:c.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCC	XP_011522131.1:n.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCC
XM_011523830.2:c.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCC	XP_011522132.1:n.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCC
XM_024450741.1:c.1667-31_1667-30insCCCCCCCCCCCCCCCCCCCC	XP_024306509.1:n.1667-31_1667-30insCCCCCCCCCCCCCCCCCCCC
XR_934021.2:n.1734-31_1734-30insCCCCCCCCCCCCCCCCCCCC
XR_934022.2:n.1640-31_1640-30insCCCCCCCCCCCCCCCCCCCC
XR_934023.2:n.1639+59_1639+60insCCCCCCCCCCCCCCCCCCCC
NM_000018.4:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000009.1:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCC
NM_001033859.3:c.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCC	NP_001029031.1:n.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCC
NM_001270447.2:c.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCC	NP_001257376.1:n.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCC
NM_001270448.2:c.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCC	NP_001257377.1:n.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCC