Canonical Allele Identifier: CA2635785982

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224622-C-CCCCCCCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224623_7224624insCCCCCCCCCCCCCCCCAC , CM000679.2:g.7224623_7224624insCCCCCCCCCCCCCCCCAC	GRCh38
NC_000017.10:g.7127942_7127943insCCCCCCCCCCCCCCCCAC , CM000679.1:g.7127942_7127943insCCCCCCCCCCCCCCCCAC	GRCh37
NC_000017.9:g.7068666_7068667insCCCCCCCCCCCCCCCCAC	NCBI36
NG_007975.1:g.9790_9791insCCCCCCCCCCCCCCCCAC
NG_008391.2:g.428_429insTGGGGGGGGGGGGGGGGG
NG_033038.1:g.14922_14923insTGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-19_1679-18insCCCCCCCCCCCCCCCCAC MANE Select	ENSP00000349297.5:n.1679-19_1679-18insCCCCCCCCCCCCCCCCAC
ENST00000322910.9:c.*1634-19_*1634-18insCCCCCCCCCCCCCCCCAC	ENSP00000325395.5:n.*1634-19_*1634-18insCCCCCCCCCCCCCCCCAC
ENST00000350303.9:c.1613-19_1613-18insCCCCCCCCCCCCCCCCAC	ENSP00000344152.5:n.1613-19_1613-18insCCCCCCCCCCCCCCCCAC
ENST00000356839.9:c.1679-19_1679-18insCCCCCCCCCCCCCCCCAC	ENSP00000349297.5:n.1679-19_1679-18insCCCCCCCCCCCCCCCCAC
ENST00000542255.6:c.536+71_536+72insCCCCCCCCCCCCCCCCAC
ENST00000543245.6:c.1748-19_1748-18insCCCCCCCCCCCCCCCCAC	ENSP00000438689.2:n.1748-19_1748-18insCCCCCCCCCCCCCCCCAC
ENST00000578319.5:n.260-19_260-18insCCCCCCCCCCCCCCCCAC
ENST00000578711.1:n.1119_1120insCCCCCCCCCCCCCCCCAC
ENST00000578809.5:n.251-19_251-18insCCCCCCCCCCCCCCCCAC
ENST00000579425.5:n.795-19_795-18insCCCCCCCCCCCCCCCCAC
ENST00000579546.1:c.414-19_414-18insCCCCCCCCCCCCCCCCAC
ENST00000582450.1:n.257_258insCCCCCCCCCCCCCCCCAC
ENST00000583074.5:n.299+71_299+72insCCCCCCCCCCCCCCCCAC
ENST00000583848.5:c.65-39_65-38insCCCCCCCCCCCCCCCCAC	ENSP00000466487.1:n.65-39_65-38insCCCCCCCCCCCCCCCCAC
ENST00000583850.5:n.450-19_450-18insCCCCCCCCCCCCCCCCAC
ENST00000583858.5:c.610-19_610-18insCCCCCCCCCCCCCCCCAC
ENST00000585203.6:n.870-19_870-18insCCCCCCCCCCCCCCCCAC
NM_000018.3:c.1679-19_1679-18insCCCCCCCCCCCCCCCCAC	NP_000009.1:n.1679-19_1679-18insCCCCCCCCCCCCCCCCAC
NM_001033859.2:c.1613-19_1613-18insCCCCCCCCCCCCCCCCAC	NP_001029031.1:n.1613-19_1613-18insCCCCCCCCCCCCCCCCAC
NM_001270447.1:c.1748-19_1748-18insCCCCCCCCCCCCCCCCAC	NP_001257376.1:n.1748-19_1748-18insCCCCCCCCCCCCCCCCAC
NM_001270448.1:c.1451-19_1451-18insCCCCCCCCCCCCCCCCAC	NP_001257377.1:n.1451-19_1451-18insCCCCCCCCCCCCCCCCAC
XM_006721516.2:c.1678+71_1678+72insCCCCCCCCCCCCCCCCAC	XP_006721579.2:n.1678+71_1678+72insCCCCCCCCCCCCCCCCAC
XM_011523829.1:c.1576+71_1576+72insCCCCCCCCCCCCCCCCAC	XP_011522131.1:n.1576+71_1576+72insCCCCCCCCCCCCCCCCAC
XM_011523830.1:c.1577-19_1577-18insCCCCCCCCCCCCCCCCAC	XP_011522132.1:n.1577-19_1577-18insCCCCCCCCCCCCCCCCAC
XR_934021.1:n.1782-19_1782-18insCCCCCCCCCCCCCCCCAC
XR_934022.1:n.1688-19_1688-18insCCCCCCCCCCCCCCCCAC
XR_934023.1:n.1687+71_1687+72insCCCCCCCCCCCCCCCCAC
XM_006721516.3:c.1678+71_1678+72insCCCCCCCCCCCCCCCCAC	XP_006721579.2:n.1678+71_1678+72insCCCCCCCCCCCCCCCCAC
XM_011523829.2:c.1576+71_1576+72insCCCCCCCCCCCCCCCCAC	XP_011522131.1:n.1576+71_1576+72insCCCCCCCCCCCCCCCCAC
XM_011523830.2:c.1577-19_1577-18insCCCCCCCCCCCCCCCCAC	XP_011522132.1:n.1577-19_1577-18insCCCCCCCCCCCCCCCCAC
XM_024450741.1:c.1667-19_1667-18insCCCCCCCCCCCCCCCCAC	XP_024306509.1:n.1667-19_1667-18insCCCCCCCCCCCCCCCCAC
XR_934021.2:n.1734-19_1734-18insCCCCCCCCCCCCCCCCAC
XR_934022.2:n.1640-19_1640-18insCCCCCCCCCCCCCCCCAC
XR_934023.2:n.1639+71_1639+72insCCCCCCCCCCCCCCCCAC
NM_000018.4:c.1679-19_1679-18insCCCCCCCCCCCCCCCCAC MANE Select	NP_000009.1:n.1679-19_1679-18insCCCCCCCCCCCCCCCCAC
NM_001033859.3:c.1613-19_1613-18insCCCCCCCCCCCCCCCCAC	NP_001029031.1:n.1613-19_1613-18insCCCCCCCCCCCCCCCCAC
NM_001270447.2:c.1748-19_1748-18insCCCCCCCCCCCCCCCCAC	NP_001257376.1:n.1748-19_1748-18insCCCCCCCCCCCCCCCCAC
NM_001270448.2:c.1451-19_1451-18insCCCCCCCCCCCCCCCCAC	NP_001257377.1:n.1451-19_1451-18insCCCCCCCCCCCCCCCCAC