Canonical Allele Identifier: CA2635786195

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224628-C-CCCCCACCCGACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224628_7224629insCCCCACCCGACAG , CM000679.2:g.7224628_7224629insCCCCACCCGACAG	GRCh38
NC_000017.10:g.7127947_7127948insCCCCACCCGACAG , CM000679.1:g.7127947_7127948insCCCCACCCGACAG	GRCh37
NC_000017.9:g.7068671_7068672insCCCCACCCGACAG	NCBI36
NG_007975.1:g.9795_9796insCCCCACCCGACAG
NG_008391.2:g.422_423insCTGTCGGGTGGGG
NG_033038.1:g.14916_14917insCTGTCGGGTGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-14_1679-13insCCCCACCCGACAG MANE Select	ENSP00000349297.5:n.1679-14_1679-13insCCCCACCCGACAG
ENST00000322910.9:c.*1634-14_*1634-13insCCCCACCCGACAG	ENSP00000325395.5:n.*1634-14_*1634-13insCCCCACCCGACAG
ENST00000350303.9:c.1613-14_1613-13insCCCCACCCGACAG	ENSP00000344152.5:n.1613-14_1613-13insCCCCACCCGACAG
ENST00000356839.9:c.1679-14_1679-13insCCCCACCCGACAG	ENSP00000349297.5:n.1679-14_1679-13insCCCCACCCGACAG
ENST00000542255.6:c.536+76_536+77insCCCCACCCGACAG
ENST00000543245.6:c.1748-14_1748-13insCCCCACCCGACAG	ENSP00000438689.2:n.1748-14_1748-13insCCCCACCCGACAG
ENST00000578319.5:n.260-14_260-13insCCCCACCCGACAG
ENST00000578711.1:n.1124_1125insCCCCACCCGACAG
ENST00000578809.5:n.251-14_251-13insCCCCACCCGACAG
ENST00000579425.5:n.795-14_795-13insCCCCACCCGACAG
ENST00000579546.1:c.414-14_414-13insCCCCACCCGACAG
ENST00000582450.1:n.262_263insCCCCACCCGACAG
ENST00000583074.5:n.299+76_299+77insCCCCACCCGACAG
ENST00000583848.5:c.65-34_65-33insCCCCACCCGACAG	ENSP00000466487.1:n.65-34_65-33insCCCCACCCGACAG
ENST00000583850.5:n.450-14_450-13insCCCCACCCGACAG
ENST00000583858.5:c.610-14_610-13insCCCCACCCGACAG
ENST00000585203.6:n.870-14_870-13insCCCCACCCGACAG
NM_000018.3:c.1679-14_1679-13insCCCCACCCGACAG	NP_000009.1:n.1679-14_1679-13insCCCCACCCGACAG
NM_001033859.2:c.1613-14_1613-13insCCCCACCCGACAG	NP_001029031.1:n.1613-14_1613-13insCCCCACCCGACAG
NM_001270447.1:c.1748-14_1748-13insCCCCACCCGACAG	NP_001257376.1:n.1748-14_1748-13insCCCCACCCGACAG
NM_001270448.1:c.1451-14_1451-13insCCCCACCCGACAG	NP_001257377.1:n.1451-14_1451-13insCCCCACCCGACAG
XM_006721516.2:c.1678+76_1678+77insCCCCACCCGACAG	XP_006721579.2:n.1678+76_1678+77insCCCCACCCGACAG
XM_011523829.1:c.1576+76_1576+77insCCCCACCCGACAG	XP_011522131.1:n.1576+76_1576+77insCCCCACCCGACAG
XM_011523830.1:c.1577-14_1577-13insCCCCACCCGACAG	XP_011522132.1:n.1577-14_1577-13insCCCCACCCGACAG
XR_934021.1:n.1782-14_1782-13insCCCCACCCGACAG
XR_934022.1:n.1688-14_1688-13insCCCCACCCGACAG
XR_934023.1:n.1687+76_1687+77insCCCCACCCGACAG
XM_006721516.3:c.1678+76_1678+77insCCCCACCCGACAG	XP_006721579.2:n.1678+76_1678+77insCCCCACCCGACAG
XM_011523829.2:c.1576+76_1576+77insCCCCACCCGACAG	XP_011522131.1:n.1576+76_1576+77insCCCCACCCGACAG
XM_011523830.2:c.1577-14_1577-13insCCCCACCCGACAG	XP_011522132.1:n.1577-14_1577-13insCCCCACCCGACAG
XM_024450741.1:c.1667-14_1667-13insCCCCACCCGACAG	XP_024306509.1:n.1667-14_1667-13insCCCCACCCGACAG
XR_934021.2:n.1734-14_1734-13insCCCCACCCGACAG
XR_934022.2:n.1640-14_1640-13insCCCCACCCGACAG
XR_934023.2:n.1639+76_1639+77insCCCCACCCGACAG
NM_000018.4:c.1679-14_1679-13insCCCCACCCGACAG MANE Select	NP_000009.1:n.1679-14_1679-13insCCCCACCCGACAG
NM_001033859.3:c.1613-14_1613-13insCCCCACCCGACAG	NP_001029031.1:n.1613-14_1613-13insCCCCACCCGACAG
NM_001270447.2:c.1748-14_1748-13insCCCCACCCGACAG	NP_001257376.1:n.1748-14_1748-13insCCCCACCCGACAG
NM_001270448.2:c.1451-14_1451-13insCCCCACCCGACAG	NP_001257377.1:n.1451-14_1451-13insCCCCACCCGACAG