Canonical Allele Identifier: CA2635785869

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224618-A-ACCACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224620_7224621insACCCCC , CM000679.2:g.7224620_7224621insACCCCC	GRCh38
NC_000017.10:g.7127939_7127940insACCCCC , CM000679.1:g.7127939_7127940insACCCCC	GRCh37
NC_000017.9:g.7068663_7068664insACCCCC	NCBI36
NG_007975.1:g.9787_9788insACCCCC
NG_008391.2:g.432_433insGGGTGG
NG_033038.1:g.14926_14927insGGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-22_1679-21insACCCCC MANE Select	ENSP00000349297.5:n.1679-22_1679-21insACCCCC
ENST00000322910.9:c.*1634-22_*1634-21insACCCCC	ENSP00000325395.5:n.*1634-22_*1634-21insACCCCC
ENST00000350303.9:c.1613-22_1613-21insACCCCC	ENSP00000344152.5:n.1613-22_1613-21insACCCCC
ENST00000356839.9:c.1679-22_1679-21insACCCCC	ENSP00000349297.5:n.1679-22_1679-21insACCCCC
ENST00000542255.6:c.536+68_536+69insACCCCC
ENST00000543245.6:c.1748-22_1748-21insACCCCC	ENSP00000438689.2:n.1748-22_1748-21insACCCCC
ENST00000578319.5:n.260-22_260-21insACCCCC
ENST00000578711.1:n.1116_1117insACCCCC
ENST00000578809.5:n.251-22_251-21insACCCCC
ENST00000579425.5:n.795-22_795-21insACCCCC
ENST00000579546.1:c.414-22_414-21insACCCCC
ENST00000582450.1:n.254_255insACCCCC
ENST00000583074.5:n.299+68_299+69insACCCCC
ENST00000583848.5:c.65-42_65-41insACCCCC	ENSP00000466487.1:n.65-42_65-41insACCCCC
ENST00000583850.5:n.450-22_450-21insACCCCC
ENST00000583858.5:c.610-22_610-21insACCCCC
ENST00000585203.6:n.870-22_870-21insACCCCC
NM_000018.3:c.1679-22_1679-21insACCCCC	NP_000009.1:n.1679-22_1679-21insACCCCC
NM_001033859.2:c.1613-22_1613-21insACCCCC	NP_001029031.1:n.1613-22_1613-21insACCCCC
NM_001270447.1:c.1748-22_1748-21insACCCCC	NP_001257376.1:n.1748-22_1748-21insACCCCC
NM_001270448.1:c.1451-22_1451-21insACCCCC	NP_001257377.1:n.1451-22_1451-21insACCCCC
XM_006721516.2:c.1678+68_1678+69insACCCCC	XP_006721579.2:n.1678+68_1678+69insACCCCC
XM_011523829.1:c.1576+68_1576+69insACCCCC	XP_011522131.1:n.1576+68_1576+69insACCCCC
XM_011523830.1:c.1577-22_1577-21insACCCCC	XP_011522132.1:n.1577-22_1577-21insACCCCC
XR_934021.1:n.1782-22_1782-21insACCCCC
XR_934022.1:n.1688-22_1688-21insACCCCC
XR_934023.1:n.1687+68_1687+69insACCCCC
XM_006721516.3:c.1678+68_1678+69insACCCCC	XP_006721579.2:n.1678+68_1678+69insACCCCC
XM_011523829.2:c.1576+68_1576+69insACCCCC	XP_011522131.1:n.1576+68_1576+69insACCCCC
XM_011523830.2:c.1577-22_1577-21insACCCCC	XP_011522132.1:n.1577-22_1577-21insACCCCC
XM_024450741.1:c.1667-22_1667-21insACCCCC	XP_024306509.1:n.1667-22_1667-21insACCCCC
XR_934021.2:n.1734-22_1734-21insACCCCC
XR_934022.2:n.1640-22_1640-21insACCCCC
XR_934023.2:n.1639+68_1639+69insACCCCC
NM_000018.4:c.1679-22_1679-21insACCCCC MANE Select	NP_000009.1:n.1679-22_1679-21insACCCCC
NM_001033859.3:c.1613-22_1613-21insACCCCC	NP_001029031.1:n.1613-22_1613-21insACCCCC
NM_001270447.2:c.1748-22_1748-21insACCCCC	NP_001257376.1:n.1748-22_1748-21insACCCCC
NM_001270448.2:c.1451-22_1451-21insACCCCC	NP_001257377.1:n.1451-22_1451-21insACCCCC