Canonical Allele Identifier: CA2635785254

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224606-G-GCCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224611_7224612insCCCCCCCCCCCCCCCCCCCCC , CM000679.2:g.7224611_7224612insCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000017.10:g.7127930_7127931insCCCCCCCCCCCCCCCCCCCCC , CM000679.1:g.7127930_7127931insCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000017.9:g.7068654_7068655insCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_007975.1:g.9778_9779insCCCCCCCCCCCCCCCCCCCCC
NG_008391.2:g.444_445insGGGGGGGGGGGGGGGGGGGGG
NG_033038.1:g.14938_14939insGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000349297.5:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000322910.9:c.*1634-31_*1634-30insCCCCCCCCCCCCCCCCCCCCC	ENSP00000325395.5:n.*1634-31_*1634-30insCCCCCCCCCCCCCCCCCCCCC...
ENST00000350303.9:c.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCCC	ENSP00000344152.5:n.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000356839.9:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC	ENSP00000349297.5:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000542255.6:c.536+59_536+60insCCCCCCCCCCCCCCCCCCCCC
ENST00000543245.6:c.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCCC	ENSP00000438689.2:n.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000578319.5:n.260-31_260-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000578711.1:n.1107_1108insCCCCCCCCCCCCCCCCCCCCC
ENST00000578809.5:n.251-31_251-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000579425.5:n.795-31_795-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000579546.1:c.414-31_414-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000582450.1:n.245_246insCCCCCCCCCCCCCCCCCCCCC
ENST00000583074.5:n.299+59_299+60insCCCCCCCCCCCCCCCCCCCCC
ENST00000583848.5:c.65-51_65-50insCCCCCCCCCCCCCCCCCCCCC	ENSP00000466487.1:n.65-51_65-50insCCCCCCCCCCCCCCCCCCCCC
ENST00000583850.5:n.450-31_450-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000583858.5:c.610-31_610-30insCCCCCCCCCCCCCCCCCCCCC
ENST00000585203.6:n.870-31_870-30insCCCCCCCCCCCCCCCCCCCCC
NM_000018.3:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC	NP_000009.1:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC
NM_001033859.2:c.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCCC	NP_001029031.1:n.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCCC
NM_001270447.1:c.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCCC	NP_001257376.1:n.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCCC
NM_001270448.1:c.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCCC	NP_001257377.1:n.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCCC
XM_006721516.2:c.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCCC	XP_006721579.2:n.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCCC
XM_011523829.1:c.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCCC	XP_011522131.1:n.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCCC
XM_011523830.1:c.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCCC	XP_011522132.1:n.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCCC
XR_934021.1:n.1782-31_1782-30insCCCCCCCCCCCCCCCCCCCCC
XR_934022.1:n.1688-31_1688-30insCCCCCCCCCCCCCCCCCCCCC
XR_934023.1:n.1687+59_1687+60insCCCCCCCCCCCCCCCCCCCCC
XM_006721516.3:c.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCCC	XP_006721579.2:n.1678+59_1678+60insCCCCCCCCCCCCCCCCCCCCC
XM_011523829.2:c.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCCC	XP_011522131.1:n.1576+59_1576+60insCCCCCCCCCCCCCCCCCCCCC
XM_011523830.2:c.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCCC	XP_011522132.1:n.1577-31_1577-30insCCCCCCCCCCCCCCCCCCCCC
XM_024450741.1:c.1667-31_1667-30insCCCCCCCCCCCCCCCCCCCCC	XP_024306509.1:n.1667-31_1667-30insCCCCCCCCCCCCCCCCCCCCC
XR_934021.2:n.1734-31_1734-30insCCCCCCCCCCCCCCCCCCCCC
XR_934022.2:n.1640-31_1640-30insCCCCCCCCCCCCCCCCCCCCC
XR_934023.2:n.1639+59_1639+60insCCCCCCCCCCCCCCCCCCCCC
NM_000018.4:c.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000009.1:n.1679-31_1679-30insCCCCCCCCCCCCCCCCCCCCC
NM_001033859.3:c.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCCC	NP_001029031.1:n.1613-31_1613-30insCCCCCCCCCCCCCCCCCCCCC
NM_001270447.2:c.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCCC	NP_001257376.1:n.1748-31_1748-30insCCCCCCCCCCCCCCCCCCCCC
NM_001270448.2:c.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCCC	NP_001257377.1:n.1451-31_1451-30insCCCCCCCCCCCCCCCCCCCCC