Canonical Allele Identifier: CA2635786188

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224628-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224629del , CM000679.2:g.7224629del	GRCh38
NC_000017.10:g.7127948del , CM000679.1:g.7127948del	GRCh37
NC_000017.9:g.7068672del	NCBI36
NG_007975.1:g.9796del
NG_008391.2:g.422del
NG_033038.1:g.14916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-13del MANE Select	ENSP00000349297.5:n.1679-13del
ENST00000322910.9:c.*1634-13del	ENSP00000325395.5:n.*1634-13del
ENST00000350303.9:c.1613-13del	ENSP00000344152.5:n.1613-13del
ENST00000356839.9:c.1679-13del	ENSP00000349297.5:n.1679-13del
ENST00000542255.6:c.536+77del
ENST00000543245.6:c.1748-13del	ENSP00000438689.2:n.1748-13del
ENST00000578319.5:n.260-13del
ENST00000578711.1:n.1125del
ENST00000578809.5:n.251-13del
ENST00000579425.5:n.795-13del
ENST00000579546.1:c.414-13del
ENST00000582450.1:n.263del
ENST00000583074.5:n.299+77del
ENST00000583848.5:c.65-33del	ENSP00000466487.1:n.65-33del
ENST00000583850.5:n.450-13del
ENST00000583858.5:c.610-13del
ENST00000585203.6:n.870-13del
NM_000018.3:c.1679-13del	NP_000009.1:n.1679-13del
NM_001033859.2:c.1613-13del	NP_001029031.1:n.1613-13del
NM_001270447.1:c.1748-13del	NP_001257376.1:n.1748-13del
NM_001270448.1:c.1451-13del	NP_001257377.1:n.1451-13del
XM_006721516.2:c.1678+77del	XP_006721579.2:n.1678+77del
XM_011523829.1:c.1576+77del	XP_011522131.1:n.1576+77del
XM_011523830.1:c.1577-13del	XP_011522132.1:n.1577-13del
XR_934021.1:n.1782-13del
XR_934022.1:n.1688-13del
XR_934023.1:n.1687+77del
XM_006721516.3:c.1678+77del	XP_006721579.2:n.1678+77del
XM_011523829.2:c.1576+77del	XP_011522131.1:n.1576+77del
XM_011523830.2:c.1577-13del	XP_011522132.1:n.1577-13del
XM_024450741.1:c.1667-13del	XP_024306509.1:n.1667-13del
XR_934021.2:n.1734-13del
XR_934022.2:n.1640-13del
XR_934023.2:n.1639+77del
NM_000018.4:c.1679-13del MANE Select	NP_000009.1:n.1679-13del
NM_001033859.3:c.1613-13del	NP_001029031.1:n.1613-13del
NM_001270447.2:c.1748-13del	NP_001257376.1:n.1748-13del
NM_001270448.2:c.1451-13del	NP_001257377.1:n.1451-13del