Canonical Allele Identifier: CA2635784971

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224605-T-TGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224606_7224607insGGGGGGGGGGGG , CM000679.2:g.7224606_7224607insGGGGGGGGGGGG	GRCh38
NC_000017.10:g.7127925_7127926insGGGGGGGGGGGG , CM000679.1:g.7127925_7127926insGGGGGGGGGGGG	GRCh37
NC_000017.9:g.7068649_7068650insGGGGGGGGGGGG	NCBI36
NG_007975.1:g.9773_9774insGGGGGGGGGGGG
NG_008391.2:g.445_446insCCCCCCCCCCCC
NG_033038.1:g.14939_14940insCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-36_1679-35insGGGGGGGGGGGG MANE Select	ENSP00000349297.5:n.1679-36_1679-35insGGGGGGGGGGGG
ENST00000322910.9:c.*1634-36_*1634-35insGGGGGGGGGGGG	ENSP00000325395.5:n.*1634-36_*1634-35insGGGGGGGGGGGG
ENST00000350303.9:c.1613-36_1613-35insGGGGGGGGGGGG	ENSP00000344152.5:n.1613-36_1613-35insGGGGGGGGGGGG
ENST00000356839.9:c.1679-36_1679-35insGGGGGGGGGGGG	ENSP00000349297.5:n.1679-36_1679-35insGGGGGGGGGGGG
ENST00000542255.6:c.536+54_536+55insGGGGGGGGGGGG
ENST00000543245.6:c.1748-36_1748-35insGGGGGGGGGGGG	ENSP00000438689.2:n.1748-36_1748-35insGGGGGGGGGGGG
ENST00000578319.5:n.260-36_260-35insGGGGGGGGGGGG
ENST00000578711.1:n.1102_1103insGGGGGGGGGGGG
ENST00000578809.5:n.251-36_251-35insGGGGGGGGGGGG
ENST00000579391.1:n.336_337insGGGGGGGGGGGG
ENST00000579425.5:n.795-36_795-35insGGGGGGGGGGGG
ENST00000579546.1:c.414-36_414-35insGGGGGGGGGGGG
ENST00000582450.1:n.240_241insGGGGGGGGGGGG
ENST00000583074.5:n.299+54_299+55insGGGGGGGGGGGG
ENST00000583848.5:c.64+54_65-55insGGGGGGGGGGGG	ENSP00000466487.1:n.64+54_65-55insGGGGGGGGGGGG
ENST00000583850.5:n.450-36_450-35insGGGGGGGGGGGG
ENST00000583858.5:c.610-36_610-35insGGGGGGGGGGGG
ENST00000585203.6:n.870-36_870-35insGGGGGGGGGGGG
NM_000018.3:c.1679-36_1679-35insGGGGGGGGGGGG	NP_000009.1:n.1679-36_1679-35insGGGGGGGGGGGG
NM_001033859.2:c.1613-36_1613-35insGGGGGGGGGGGG	NP_001029031.1:n.1613-36_1613-35insGGGGGGGGGGGG
NM_001270447.1:c.1748-36_1748-35insGGGGGGGGGGGG	NP_001257376.1:n.1748-36_1748-35insGGGGGGGGGGGG
NM_001270448.1:c.1451-36_1451-35insGGGGGGGGGGGG	NP_001257377.1:n.1451-36_1451-35insGGGGGGGGGGGG
XM_006721516.2:c.1678+54_1678+55insGGGGGGGGGGGG	XP_006721579.2:n.1678+54_1678+55insGGGGGGGGGGGG
XM_011523829.1:c.1576+54_1576+55insGGGGGGGGGGGG	XP_011522131.1:n.1576+54_1576+55insGGGGGGGGGGGG
XM_011523830.1:c.1577-36_1577-35insGGGGGGGGGGGG	XP_011522132.1:n.1577-36_1577-35insGGGGGGGGGGGG
XR_934021.1:n.1782-36_1782-35insGGGGGGGGGGGG
XR_934022.1:n.1688-36_1688-35insGGGGGGGGGGGG
XR_934023.1:n.1687+54_1687+55insGGGGGGGGGGGG
XM_006721516.3:c.1678+54_1678+55insGGGGGGGGGGGG	XP_006721579.2:n.1678+54_1678+55insGGGGGGGGGGGG
XM_011523829.2:c.1576+54_1576+55insGGGGGGGGGGGG	XP_011522131.1:n.1576+54_1576+55insGGGGGGGGGGGG
XM_011523830.2:c.1577-36_1577-35insGGGGGGGGGGGG	XP_011522132.1:n.1577-36_1577-35insGGGGGGGGGGGG
XM_024450741.1:c.1667-36_1667-35insGGGGGGGGGGGG	XP_024306509.1:n.1667-36_1667-35insGGGGGGGGGGGG
XR_934021.2:n.1734-36_1734-35insGGGGGGGGGGGG
XR_934022.2:n.1640-36_1640-35insGGGGGGGGGGGG
XR_934023.2:n.1639+54_1639+55insGGGGGGGGGGGG
NM_000018.4:c.1679-36_1679-35insGGGGGGGGGGGG MANE Select	NP_000009.1:n.1679-36_1679-35insGGGGGGGGGGGG
NM_001033859.3:c.1613-36_1613-35insGGGGGGGGGGGG	NP_001029031.1:n.1613-36_1613-35insGGGGGGGGGGGG
NM_001270447.2:c.1748-36_1748-35insGGGGGGGGGGGG	NP_001257376.1:n.1748-36_1748-35insGGGGGGGGGGGG
NM_001270448.2:c.1451-36_1451-35insGGGGGGGGGGGG	NP_001257377.1:n.1451-36_1451-35insGGGGGGGGGGGG