Canonical Allele Identifier: CA2635785165

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224606-G-GCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224610_7224611insTCCCC , CM000679.2:g.7224610_7224611insTCCCC	GRCh38
NC_000017.10:g.7127929_7127930insTCCCC , CM000679.1:g.7127929_7127930insTCCCC	GRCh37
NC_000017.9:g.7068653_7068654insTCCCC	NCBI36
NG_007975.1:g.9777_9778insTCCCC
NG_008391.2:g.444_445insAGGGG
NG_033038.1:g.14938_14939insAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-32_1679-31insTCCCC MANE Select	ENSP00000349297.5:n.1679-32_1679-31insTCCCC
ENST00000322910.9:c.*1634-32_*1634-31insTCCCC	ENSP00000325395.5:n.*1634-32_*1634-31insTCCCC
ENST00000350303.9:c.1613-32_1613-31insTCCCC	ENSP00000344152.5:n.1613-32_1613-31insTCCCC
ENST00000356839.9:c.1679-32_1679-31insTCCCC	ENSP00000349297.5:n.1679-32_1679-31insTCCCC
ENST00000542255.6:c.536+58_536+59insTCCCC
ENST00000543245.6:c.1748-32_1748-31insTCCCC	ENSP00000438689.2:n.1748-32_1748-31insTCCCC
ENST00000578319.5:n.260-32_260-31insTCCCC
ENST00000578711.1:n.1106_1107insTCCCC
ENST00000578809.5:n.251-32_251-31insTCCCC
ENST00000579391.1:n.340_341insTCCCC
ENST00000579425.5:n.795-32_795-31insTCCCC
ENST00000579546.1:c.414-32_414-31insTCCCC
ENST00000582450.1:n.244_245insTCCCC
ENST00000583074.5:n.299+58_299+59insTCCCC
ENST00000583848.5:c.65-52_65-51insTCCCC	ENSP00000466487.1:n.65-52_65-51insTCCCC
ENST00000583850.5:n.450-32_450-31insTCCCC
ENST00000583858.5:c.610-32_610-31insTCCCC
ENST00000585203.6:n.870-32_870-31insTCCCC
NM_000018.3:c.1679-32_1679-31insTCCCC	NP_000009.1:n.1679-32_1679-31insTCCCC
NM_001033859.2:c.1613-32_1613-31insTCCCC	NP_001029031.1:n.1613-32_1613-31insTCCCC
NM_001270447.1:c.1748-32_1748-31insTCCCC	NP_001257376.1:n.1748-32_1748-31insTCCCC
NM_001270448.1:c.1451-32_1451-31insTCCCC	NP_001257377.1:n.1451-32_1451-31insTCCCC
XM_006721516.2:c.1678+58_1678+59insTCCCC	XP_006721579.2:n.1678+58_1678+59insTCCCC
XM_011523829.1:c.1576+58_1576+59insTCCCC	XP_011522131.1:n.1576+58_1576+59insTCCCC
XM_011523830.1:c.1577-32_1577-31insTCCCC	XP_011522132.1:n.1577-32_1577-31insTCCCC
XR_934021.1:n.1782-32_1782-31insTCCCC
XR_934022.1:n.1688-32_1688-31insTCCCC
XR_934023.1:n.1687+58_1687+59insTCCCC
XM_006721516.3:c.1678+58_1678+59insTCCCC	XP_006721579.2:n.1678+58_1678+59insTCCCC
XM_011523829.2:c.1576+58_1576+59insTCCCC	XP_011522131.1:n.1576+58_1576+59insTCCCC
XM_011523830.2:c.1577-32_1577-31insTCCCC	XP_011522132.1:n.1577-32_1577-31insTCCCC
XM_024450741.1:c.1667-32_1667-31insTCCCC	XP_024306509.1:n.1667-32_1667-31insTCCCC
XR_934021.2:n.1734-32_1734-31insTCCCC
XR_934022.2:n.1640-32_1640-31insTCCCC
XR_934023.2:n.1639+58_1639+59insTCCCC
NM_000018.4:c.1679-32_1679-31insTCCCC MANE Select	NP_000009.1:n.1679-32_1679-31insTCCCC
NM_001033859.3:c.1613-32_1613-31insTCCCC	NP_001029031.1:n.1613-32_1613-31insTCCCC
NM_001270447.2:c.1748-32_1748-31insTCCCC	NP_001257376.1:n.1748-32_1748-31insTCCCC
NM_001270448.2:c.1451-32_1451-31insTCCCC	NP_001257377.1:n.1451-32_1451-31insTCCCC