Canonical Allele Identifier: CA2635785669

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224612-A-ACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224613_7224617dup , CM000679.2:g.7224613_7224617dup	GRCh38
NC_000017.10:g.7127932_7127936dup , CM000679.1:g.7127932_7127936dup	GRCh37
NC_000017.9:g.7068656_7068660dup	NCBI36
NG_007975.1:g.9780_9784dup
NG_008391.2:g.434_438dup
NG_033038.1:g.14928_14932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-29_1679-25dup MANE Select	ENSP00000349297.5:n.1679-29_1679-25dup
ENST00000322910.9:c.*1634-29_*1634-25dup	ENSP00000325395.5:n.*1634-29_*1634-25dup
ENST00000350303.9:c.1613-29_1613-25dup	ENSP00000344152.5:n.1613-29_1613-25dup
ENST00000356839.9:c.1679-29_1679-25dup	ENSP00000349297.5:n.1679-29_1679-25dup
ENST00000542255.6:c.536+61_536+65dup
ENST00000543245.6:c.1748-29_1748-25dup	ENSP00000438689.2:n.1748-29_1748-25dup
ENST00000578319.5:n.260-29_260-25dup
ENST00000578711.1:n.1109_1113dup
ENST00000578809.5:n.251-29_251-25dup
ENST00000579425.5:n.795-29_795-25dup
ENST00000579546.1:c.414-29_414-25dup
ENST00000582450.1:n.247_251dup
ENST00000583074.5:n.299+61_299+65dup
ENST00000583848.5:c.65-49_65-45dup	ENSP00000466487.1:n.65-49_65-45dup
ENST00000583850.5:n.450-29_450-25dup
ENST00000583858.5:c.610-29_610-25dup
ENST00000585203.6:n.870-29_870-25dup
NM_000018.3:c.1679-29_1679-25dup	NP_000009.1:n.1679-29_1679-25dup
NM_001033859.2:c.1613-29_1613-25dup	NP_001029031.1:n.1613-29_1613-25dup
NM_001270447.1:c.1748-29_1748-25dup	NP_001257376.1:n.1748-29_1748-25dup
NM_001270448.1:c.1451-29_1451-25dup	NP_001257377.1:n.1451-29_1451-25dup
XM_006721516.2:c.1678+61_1678+65dup	XP_006721579.2:n.1678+61_1678+65dup
XM_011523829.1:c.1576+61_1576+65dup	XP_011522131.1:n.1576+61_1576+65dup
XM_011523830.1:c.1577-29_1577-25dup	XP_011522132.1:n.1577-29_1577-25dup
XR_934021.1:n.1782-29_1782-25dup
XR_934022.1:n.1688-29_1688-25dup
XR_934023.1:n.1687+61_1687+65dup
XM_006721516.3:c.1678+61_1678+65dup	XP_006721579.2:n.1678+61_1678+65dup
XM_011523829.2:c.1576+61_1576+65dup	XP_011522131.1:n.1576+61_1576+65dup
XM_011523830.2:c.1577-29_1577-25dup	XP_011522132.1:n.1577-29_1577-25dup
XM_024450741.1:c.1667-29_1667-25dup	XP_024306509.1:n.1667-29_1667-25dup
XR_934021.2:n.1734-29_1734-25dup
XR_934022.2:n.1640-29_1640-25dup
XR_934023.2:n.1639+61_1639+65dup
NM_000018.4:c.1679-29_1679-25dup MANE Select	NP_000009.1:n.1679-29_1679-25dup
NM_001033859.3:c.1613-29_1613-25dup	NP_001029031.1:n.1613-29_1613-25dup
NM_001270447.2:c.1748-29_1748-25dup	NP_001257376.1:n.1748-29_1748-25dup
NM_001270448.2:c.1451-29_1451-25dup	NP_001257377.1:n.1451-29_1451-25dup