Canonical Allele Identifier: CA2635786039

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224624-A-ACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224626_7224628dup , CM000679.2:g.7224626_7224628dup	GRCh38
NC_000017.10:g.7127945_7127947dup , CM000679.1:g.7127945_7127947dup	GRCh37
NC_000017.9:g.7068669_7068671dup	NCBI36
NG_007975.1:g.9793_9795dup
NG_008391.2:g.424_426dup
NG_033038.1:g.14918_14920dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-16_1679-14dup MANE Select	ENSP00000349297.5:n.1679-16_1679-14dup
ENST00000322910.9:c.*1634-16_*1634-14dup	ENSP00000325395.5:n.*1634-16_*1634-14dup
ENST00000350303.9:c.1613-16_1613-14dup	ENSP00000344152.5:n.1613-16_1613-14dup
ENST00000356839.9:c.1679-16_1679-14dup	ENSP00000349297.5:n.1679-16_1679-14dup
ENST00000542255.6:c.536+74_536+76dup
ENST00000543245.6:c.1748-16_1748-14dup	ENSP00000438689.2:n.1748-16_1748-14dup
ENST00000578319.5:n.260-16_260-14dup
ENST00000578711.1:n.1122_1124dup
ENST00000578809.5:n.251-16_251-14dup
ENST00000579425.5:n.795-16_795-14dup
ENST00000579546.1:c.414-16_414-14dup
ENST00000582450.1:n.260_262dup
ENST00000583074.5:n.299+74_299+76dup
ENST00000583848.5:c.65-36_65-34dup	ENSP00000466487.1:n.65-36_65-34dup
ENST00000583850.5:n.450-16_450-14dup
ENST00000583858.5:c.610-16_610-14dup
ENST00000585203.6:n.870-16_870-14dup
NM_000018.3:c.1679-16_1679-14dup	NP_000009.1:n.1679-16_1679-14dup
NM_001033859.2:c.1613-16_1613-14dup	NP_001029031.1:n.1613-16_1613-14dup
NM_001270447.1:c.1748-16_1748-14dup	NP_001257376.1:n.1748-16_1748-14dup
NM_001270448.1:c.1451-16_1451-14dup	NP_001257377.1:n.1451-16_1451-14dup
XM_006721516.2:c.1678+74_1678+76dup	XP_006721579.2:n.1678+74_1678+76dup
XM_011523829.1:c.1576+74_1576+76dup	XP_011522131.1:n.1576+74_1576+76dup
XM_011523830.1:c.1577-16_1577-14dup	XP_011522132.1:n.1577-16_1577-14dup
XR_934021.1:n.1782-16_1782-14dup
XR_934022.1:n.1688-16_1688-14dup
XR_934023.1:n.1687+74_1687+76dup
XM_006721516.3:c.1678+74_1678+76dup	XP_006721579.2:n.1678+74_1678+76dup
XM_011523829.2:c.1576+74_1576+76dup	XP_011522131.1:n.1576+74_1576+76dup
XM_011523830.2:c.1577-16_1577-14dup	XP_011522132.1:n.1577-16_1577-14dup
XM_024450741.1:c.1667-16_1667-14dup	XP_024306509.1:n.1667-16_1667-14dup
XR_934021.2:n.1734-16_1734-14dup
XR_934022.2:n.1640-16_1640-14dup
XR_934023.2:n.1639+74_1639+76dup
NM_000018.4:c.1679-16_1679-14dup MANE Select	NP_000009.1:n.1679-16_1679-14dup
NM_001033859.3:c.1613-16_1613-14dup	NP_001029031.1:n.1613-16_1613-14dup
NM_001270447.2:c.1748-16_1748-14dup	NP_001257376.1:n.1748-16_1748-14dup
NM_001270448.2:c.1451-16_1451-14dup	NP_001257377.1:n.1451-16_1451-14dup