Canonical Allele Identifier: CA2635785414

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224609-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224609_7224610insT , CM000679.2:g.7224609_7224610insT	GRCh38
NC_000017.10:g.7127928_7127929insT , CM000679.1:g.7127928_7127929insT	GRCh37
NC_000017.9:g.7068652_7068653insT	NCBI36
NG_007975.1:g.9776_9777insT
NG_008391.2:g.441_442insA
NG_033038.1:g.14935_14936insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-33_1679-32insT MANE Select	ENSP00000349297.5:n.1679-33_1679-32insT
ENST00000322910.9:c.*1634-33_*1634-32insT	ENSP00000325395.5:n.*1634-33_*1634-32insT
ENST00000350303.9:c.1613-33_1613-32insT	ENSP00000344152.5:n.1613-33_1613-32insT
ENST00000356839.9:c.1679-33_1679-32insT	ENSP00000349297.5:n.1679-33_1679-32insT
ENST00000542255.6:c.536+57_536+58insT
ENST00000543245.6:c.1748-33_1748-32insT	ENSP00000438689.2:n.1748-33_1748-32insT
ENST00000578319.5:n.260-33_260-32insT
ENST00000578711.1:n.1105_1106insT
ENST00000578809.5:n.251-33_251-32insT
ENST00000579391.1:n.339_340insT
ENST00000579425.5:n.795-33_795-32insT
ENST00000579546.1:c.414-33_414-32insT
ENST00000582450.1:n.243_244insT
ENST00000583074.5:n.299+57_299+58insT
ENST00000583848.5:c.65-53_65-52insT	ENSP00000466487.1:n.65-53_65-52insT
ENST00000583850.5:n.450-33_450-32insT
ENST00000583858.5:c.610-33_610-32insT
ENST00000585203.6:n.870-33_870-32insT
NM_000018.3:c.1679-33_1679-32insT	NP_000009.1:n.1679-33_1679-32insT
NM_001033859.2:c.1613-33_1613-32insT	NP_001029031.1:n.1613-33_1613-32insT
NM_001270447.1:c.1748-33_1748-32insT	NP_001257376.1:n.1748-33_1748-32insT
NM_001270448.1:c.1451-33_1451-32insT	NP_001257377.1:n.1451-33_1451-32insT
XM_006721516.2:c.1678+57_1678+58insT	XP_006721579.2:n.1678+57_1678+58insT
XM_011523829.1:c.1576+57_1576+58insT	XP_011522131.1:n.1576+57_1576+58insT
XM_011523830.1:c.1577-33_1577-32insT	XP_011522132.1:n.1577-33_1577-32insT
XR_934021.1:n.1782-33_1782-32insT
XR_934022.1:n.1688-33_1688-32insT
XR_934023.1:n.1687+57_1687+58insT
XM_006721516.3:c.1678+57_1678+58insT	XP_006721579.2:n.1678+57_1678+58insT
XM_011523829.2:c.1576+57_1576+58insT	XP_011522131.1:n.1576+57_1576+58insT
XM_011523830.2:c.1577-33_1577-32insT	XP_011522132.1:n.1577-33_1577-32insT
XM_024450741.1:c.1667-33_1667-32insT	XP_024306509.1:n.1667-33_1667-32insT
XR_934021.2:n.1734-33_1734-32insT
XR_934022.2:n.1640-33_1640-32insT
XR_934023.2:n.1639+57_1639+58insT
NM_000018.4:c.1679-33_1679-32insT MANE Select	NP_000009.1:n.1679-33_1679-32insT
NM_001033859.3:c.1613-33_1613-32insT	NP_001029031.1:n.1613-33_1613-32insT
NM_001270447.2:c.1748-33_1748-32insT	NP_001257376.1:n.1748-33_1748-32insT
NM_001270448.2:c.1451-33_1451-32insT	NP_001257377.1:n.1451-33_1451-32insT