Canonical Allele Identifier: CA2635786262

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224632-TACCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224635_7224639del , CM000679.2:g.7224635_7224639del	GRCh38
NC_000017.10:g.7127954_7127958del , CM000679.1:g.7127954_7127958del	GRCh37
NC_000017.9:g.7068678_7068682del	NCBI36
NG_007975.1:g.9802_9806del
NG_008391.2:g.414_418del
NG_033038.1:g.14908_14912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1679-7_1679-3del MANE Select	ENSP00000349297.5:n.1679-7_1679-3del
ENST00000322910.9:c.*1634-7_*1634-3del	ENSP00000325395.5:n.*1634-7_*1634-3del
ENST00000350303.9:c.1613-7_1613-3del	ENSP00000344152.5:n.1613-7_1613-3del
ENST00000356839.9:c.1679-7_1679-3del	ENSP00000349297.5:n.1679-7_1679-3del
ENST00000542255.6:c.537-80_537-76del
ENST00000543245.6:c.1748-7_1748-3del	ENSP00000438689.2:n.1748-7_1748-3del
ENST00000578033.1:n.3_7del
ENST00000578319.5:n.260-7_260-3del
ENST00000578711.1:n.1131_1135del
ENST00000578809.5:n.251-7_251-3del
ENST00000579425.5:n.795-7_795-3del
ENST00000579546.1:c.414-7_414-3del
ENST00000582450.1:n.269_273del
ENST00000583074.5:n.300-80_300-76del
ENST00000583848.5:c.65-27_65-23del	ENSP00000466487.1:n.65-27_65-23del
ENST00000583850.5:n.450-7_450-3del
ENST00000583858.5:c.610-7_610-3del
ENST00000585203.6:n.870-7_870-3del
NM_000018.3:c.1679-7_1679-3del	NP_000009.1:n.1679-7_1679-3del
NM_001033859.2:c.1613-7_1613-3del	NP_001029031.1:n.1613-7_1613-3del
NM_001270447.1:c.1748-7_1748-3del	NP_001257376.1:n.1748-7_1748-3del
NM_001270448.1:c.1451-7_1451-3del	NP_001257377.1:n.1451-7_1451-3del
XM_006721516.2:c.1679-80_1679-76del	XP_006721579.2:n.1679-80_1679-76del
XM_011523829.1:c.1577-80_1577-76del	XP_011522131.1:n.1577-80_1577-76del
XM_011523830.1:c.1577-7_1577-3del	XP_011522132.1:n.1577-7_1577-3del
XR_934021.1:n.1782-7_1782-3del
XR_934022.1:n.1688-7_1688-3del
XR_934023.1:n.1688-80_1688-76del
XM_006721516.3:c.1679-80_1679-76del	XP_006721579.2:n.1679-80_1679-76del
XM_011523829.2:c.1577-80_1577-76del	XP_011522131.1:n.1577-80_1577-76del
XM_011523830.2:c.1577-7_1577-3del	XP_011522132.1:n.1577-7_1577-3del
XM_024450741.1:c.1667-7_1667-3del	XP_024306509.1:n.1667-7_1667-3del
XR_934021.2:n.1734-7_1734-3del
XR_934022.2:n.1640-7_1640-3del
XR_934023.2:n.1640-80_1640-76del
NM_000018.4:c.1679-7_1679-3del MANE Select	NP_000009.1:n.1679-7_1679-3del
NM_001033859.3:c.1613-7_1613-3del	NP_001029031.1:n.1613-7_1613-3del
NM_001270447.2:c.1748-7_1748-3del	NP_001257376.1:n.1748-7_1748-3del
NM_001270448.2:c.1451-7_1451-3del	NP_001257377.1:n.1451-7_1451-3del