Canonical Allele Identifier: CA2635785956

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224621-C-CCCCCCCCCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224623_7224624insCCCCCCCCCCCCCCCCCACC , CM000679.2:g.7224623_7224624insCCCCCCCCCCCCCCCCCACC	GRCh38
NC_000017.10:g.7127942_7127943insCCCCCCCCCCCCCCCCCACC , CM000679.1:g.7127942_7127943insCCCCCCCCCCCCCCCCCACC	GRCh37
NC_000017.9:g.7068666_7068667insCCCCCCCCCCCCCCCCCACC	NCBI36
NG_007975.1:g.9790_9791insCCCCCCCCCCCCCCCCCACC
NG_008391.2:g.429_430insTGGGGGGGGGGGGGGGGGGG
NG_033038.1:g.14923_14924insTGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC MANE Select	ENSP00000349297.5:n.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC
ENST00000322910.9:c.*1634-19_*1634-18insCCCCCCCCCCCCCCCCCACC	ENSP00000325395.5:n.*1634-19_*1634-18insCCCCCCCCCCCCCCCCCACC
ENST00000350303.9:c.1613-19_1613-18insCCCCCCCCCCCCCCCCCACC	ENSP00000344152.5:n.1613-19_1613-18insCCCCCCCCCCCCCCCCCACC
ENST00000356839.9:c.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC	ENSP00000349297.5:n.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC
ENST00000542255.6:c.536+71_536+72insCCCCCCCCCCCCCCCCCACC
ENST00000543245.6:c.1748-19_1748-18insCCCCCCCCCCCCCCCCCACC	ENSP00000438689.2:n.1748-19_1748-18insCCCCCCCCCCCCCCCCCACC
ENST00000578319.5:n.260-19_260-18insCCCCCCCCCCCCCCCCCACC
ENST00000578711.1:n.1119_1120insCCCCCCCCCCCCCCCCCACC
ENST00000578809.5:n.251-19_251-18insCCCCCCCCCCCCCCCCCACC
ENST00000579425.5:n.795-19_795-18insCCCCCCCCCCCCCCCCCACC
ENST00000579546.1:c.414-19_414-18insCCCCCCCCCCCCCCCCCACC
ENST00000582450.1:n.257_258insCCCCCCCCCCCCCCCCCACC
ENST00000583074.5:n.299+71_299+72insCCCCCCCCCCCCCCCCCACC
ENST00000583848.5:c.65-39_65-38insCCCCCCCCCCCCCCCCCACC	ENSP00000466487.1:n.65-39_65-38insCCCCCCCCCCCCCCCCCACC
ENST00000583850.5:n.450-19_450-18insCCCCCCCCCCCCCCCCCACC
ENST00000583858.5:c.610-19_610-18insCCCCCCCCCCCCCCCCCACC
ENST00000585203.6:n.870-19_870-18insCCCCCCCCCCCCCCCCCACC
NM_000018.3:c.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC	NP_000009.1:n.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC
NM_001033859.2:c.1613-19_1613-18insCCCCCCCCCCCCCCCCCACC	NP_001029031.1:n.1613-19_1613-18insCCCCCCCCCCCCCCCCCACC
NM_001270447.1:c.1748-19_1748-18insCCCCCCCCCCCCCCCCCACC	NP_001257376.1:n.1748-19_1748-18insCCCCCCCCCCCCCCCCCACC
NM_001270448.1:c.1451-19_1451-18insCCCCCCCCCCCCCCCCCACC	NP_001257377.1:n.1451-19_1451-18insCCCCCCCCCCCCCCCCCACC
XM_006721516.2:c.1678+71_1678+72insCCCCCCCCCCCCCCCCCACC	XP_006721579.2:n.1678+71_1678+72insCCCCCCCCCCCCCCCCCACC
XM_011523829.1:c.1576+71_1576+72insCCCCCCCCCCCCCCCCCACC	XP_011522131.1:n.1576+71_1576+72insCCCCCCCCCCCCCCCCCACC
XM_011523830.1:c.1577-19_1577-18insCCCCCCCCCCCCCCCCCACC	XP_011522132.1:n.1577-19_1577-18insCCCCCCCCCCCCCCCCCACC
XR_934021.1:n.1782-19_1782-18insCCCCCCCCCCCCCCCCCACC
XR_934022.1:n.1688-19_1688-18insCCCCCCCCCCCCCCCCCACC
XR_934023.1:n.1687+71_1687+72insCCCCCCCCCCCCCCCCCACC
XM_006721516.3:c.1678+71_1678+72insCCCCCCCCCCCCCCCCCACC	XP_006721579.2:n.1678+71_1678+72insCCCCCCCCCCCCCCCCCACC
XM_011523829.2:c.1576+71_1576+72insCCCCCCCCCCCCCCCCCACC	XP_011522131.1:n.1576+71_1576+72insCCCCCCCCCCCCCCCCCACC
XM_011523830.2:c.1577-19_1577-18insCCCCCCCCCCCCCCCCCACC	XP_011522132.1:n.1577-19_1577-18insCCCCCCCCCCCCCCCCCACC
XM_024450741.1:c.1667-19_1667-18insCCCCCCCCCCCCCCCCCACC	XP_024306509.1:n.1667-19_1667-18insCCCCCCCCCCCCCCCCCACC
XR_934021.2:n.1734-19_1734-18insCCCCCCCCCCCCCCCCCACC
XR_934022.2:n.1640-19_1640-18insCCCCCCCCCCCCCCCCCACC
XR_934023.2:n.1639+71_1639+72insCCCCCCCCCCCCCCCCCACC
NM_000018.4:c.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC MANE Select	NP_000009.1:n.1679-19_1679-18insCCCCCCCCCCCCCCCCCACC
NM_001033859.3:c.1613-19_1613-18insCCCCCCCCCCCCCCCCCACC	NP_001029031.1:n.1613-19_1613-18insCCCCCCCCCCCCCCCCCACC
NM_001270447.2:c.1748-19_1748-18insCCCCCCCCCCCCCCCCCACC	NP_001257376.1:n.1748-19_1748-18insCCCCCCCCCCCCCCCCCACC
NM_001270448.2:c.1451-19_1451-18insCCCCCCCCCCCCCCCCCACC	NP_001257377.1:n.1451-19_1451-18insCCCCCCCCCCCCCCCCCACC