Canonical Allele Identifier: CA2635785893

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224618-A-AACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224618_7224619insACCCCCC , CM000679.2:g.7224618_7224619insACCCCCC	GRCh38
NC_000017.10:g.7127937_7127938insACCCCCC , CM000679.1:g.7127937_7127938insACCCCCC	GRCh37
NC_000017.9:g.7068661_7068662insACCCCCC	NCBI36
NG_007975.1:g.9785_9786insACCCCCC
NG_008391.2:g.432_433insGGGGGGT
NG_033038.1:g.14926_14927insGGGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-24_1679-23insACCCCCC MANE Select	ENSP00000349297.5:n.1679-24_1679-23insACCCCCC
ENST00000322910.9:c.*1634-24_*1634-23insACCCCCC	ENSP00000325395.5:n.*1634-24_*1634-23insACCCCCC
ENST00000350303.9:c.1613-24_1613-23insACCCCCC	ENSP00000344152.5:n.1613-24_1613-23insACCCCCC
ENST00000356839.9:c.1679-24_1679-23insACCCCCC	ENSP00000349297.5:n.1679-24_1679-23insACCCCCC
ENST00000542255.6:c.536+66_536+67insACCCCCC
ENST00000543245.6:c.1748-24_1748-23insACCCCCC	ENSP00000438689.2:n.1748-24_1748-23insACCCCCC
ENST00000578319.5:n.260-24_260-23insACCCCCC
ENST00000578711.1:n.1114_1115insACCCCCC
ENST00000578809.5:n.251-24_251-23insACCCCCC
ENST00000579425.5:n.795-24_795-23insACCCCCC
ENST00000579546.1:c.414-24_414-23insACCCCCC
ENST00000582450.1:n.252_253insACCCCCC
ENST00000583074.5:n.299+66_299+67insACCCCCC
ENST00000583848.5:c.65-44_65-43insACCCCCC	ENSP00000466487.1:n.65-44_65-43insACCCCCC
ENST00000583850.5:n.450-24_450-23insACCCCCC
ENST00000583858.5:c.610-24_610-23insACCCCCC
ENST00000585203.6:n.870-24_870-23insACCCCCC
NM_000018.3:c.1679-24_1679-23insACCCCCC	NP_000009.1:n.1679-24_1679-23insACCCCCC
NM_001033859.2:c.1613-24_1613-23insACCCCCC	NP_001029031.1:n.1613-24_1613-23insACCCCCC
NM_001270447.1:c.1748-24_1748-23insACCCCCC	NP_001257376.1:n.1748-24_1748-23insACCCCCC
NM_001270448.1:c.1451-24_1451-23insACCCCCC	NP_001257377.1:n.1451-24_1451-23insACCCCCC
XM_006721516.2:c.1678+66_1678+67insACCCCCC	XP_006721579.2:n.1678+66_1678+67insACCCCCC
XM_011523829.1:c.1576+66_1576+67insACCCCCC	XP_011522131.1:n.1576+66_1576+67insACCCCCC
XM_011523830.1:c.1577-24_1577-23insACCCCCC	XP_011522132.1:n.1577-24_1577-23insACCCCCC
XR_934021.1:n.1782-24_1782-23insACCCCCC
XR_934022.1:n.1688-24_1688-23insACCCCCC
XR_934023.1:n.1687+66_1687+67insACCCCCC
XM_006721516.3:c.1678+66_1678+67insACCCCCC	XP_006721579.2:n.1678+66_1678+67insACCCCCC
XM_011523829.2:c.1576+66_1576+67insACCCCCC	XP_011522131.1:n.1576+66_1576+67insACCCCCC
XM_011523830.2:c.1577-24_1577-23insACCCCCC	XP_011522132.1:n.1577-24_1577-23insACCCCCC
XM_024450741.1:c.1667-24_1667-23insACCCCCC	XP_024306509.1:n.1667-24_1667-23insACCCCCC
XR_934021.2:n.1734-24_1734-23insACCCCCC
XR_934022.2:n.1640-24_1640-23insACCCCCC
XR_934023.2:n.1639+66_1639+67insACCCCCC
NM_000018.4:c.1679-24_1679-23insACCCCCC MANE Select	NP_000009.1:n.1679-24_1679-23insACCCCCC
NM_001033859.3:c.1613-24_1613-23insACCCCCC	NP_001029031.1:n.1613-24_1613-23insACCCCCC
NM_001270447.2:c.1748-24_1748-23insACCCCCC	NP_001257376.1:n.1748-24_1748-23insACCCCCC
NM_001270448.2:c.1451-24_1451-23insACCCCCC	NP_001257377.1:n.1451-24_1451-23insACCCCCC