Canonical Allele Identifier: CA2635785478

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224611-C-CACCCCACCTACCGGACAGATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224616_7224617insACCTACCGGACAGATGAACCCC , CM000679.2:g.7224616_7224617insACCTACCGGACAGATGAACCCC	GRCh38
NC_000017.10:g.7127935_7127936insACCTACCGGACAGATGAACCCC , CM000679.1:g.7127935_7127936insACCTACCGGACAGATGAACCCC	GRCh37
NC_000017.9:g.7068659_7068660insACCTACCGGACAGATGAACCCC	NCBI36
NG_007975.1:g.9783_9784insACCTACCGGACAGATGAACCCC
NG_008391.2:g.439_440insTCATCTGTCCGGTAGGTGGGGT
NG_033038.1:g.14933_14934insTCATCTGTCCGGTAGGTGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679-26_1679-25insACCTACCGGACAGATGAACCCC MANE Select	ENSP00000349297.5:n.1679-26_1679-25insACCTACCGGACAGATGAACCCC
ENST00000322910.9:c.*1634-26_*1634-25insACCTACCGGACAGATGAACCCC	ENSP00000325395.5:n.*1634-26_*1634-25insACCTACCGGACAGATGAACCC...
ENST00000350303.9:c.1613-26_1613-25insACCTACCGGACAGATGAACCCC	ENSP00000344152.5:n.1613-26_1613-25insACCTACCGGACAGATGAACCCC
ENST00000356839.9:c.1679-26_1679-25insACCTACCGGACAGATGAACCCC	ENSP00000349297.5:n.1679-26_1679-25insACCTACCGGACAGATGAACCCC
ENST00000542255.6:c.536+64_536+65insACCTACCGGACAGATGAACCCC
ENST00000543245.6:c.1748-26_1748-25insACCTACCGGACAGATGAACCCC	ENSP00000438689.2:n.1748-26_1748-25insACCTACCGGACAGATGAACCCC
ENST00000578319.5:n.260-26_260-25insACCTACCGGACAGATGAACCCC
ENST00000578711.1:n.1112_1113insACCTACCGGACAGATGAACCCC
ENST00000578809.5:n.251-26_251-25insACCTACCGGACAGATGAACCCC
ENST00000579425.5:n.795-26_795-25insACCTACCGGACAGATGAACCCC
ENST00000579546.1:c.414-26_414-25insACCTACCGGACAGATGAACCCC
ENST00000582450.1:n.250_251insACCTACCGGACAGATGAACCCC
ENST00000583074.5:n.299+64_299+65insACCTACCGGACAGATGAACCCC
ENST00000583848.5:c.65-46_65-45insACCTACCGGACAGATGAACCCC	ENSP00000466487.1:n.65-46_65-45insACCTACCGGACAGATGAACCCC
ENST00000583850.5:n.450-26_450-25insACCTACCGGACAGATGAACCCC
ENST00000583858.5:c.610-26_610-25insACCTACCGGACAGATGAACCCC
ENST00000585203.6:n.870-26_870-25insACCTACCGGACAGATGAACCCC
NM_000018.3:c.1679-26_1679-25insACCTACCGGACAGATGAACCCC	NP_000009.1:n.1679-26_1679-25insACCTACCGGACAGATGAACCCC
NM_001033859.2:c.1613-26_1613-25insACCTACCGGACAGATGAACCCC	NP_001029031.1:n.1613-26_1613-25insACCTACCGGACAGATGAACCCC
NM_001270447.1:c.1748-26_1748-25insACCTACCGGACAGATGAACCCC	NP_001257376.1:n.1748-26_1748-25insACCTACCGGACAGATGAACCCC
NM_001270448.1:c.1451-26_1451-25insACCTACCGGACAGATGAACCCC	NP_001257377.1:n.1451-26_1451-25insACCTACCGGACAGATGAACCCC
XM_006721516.2:c.1678+64_1678+65insACCTACCGGACAGATGAACCCC	XP_006721579.2:n.1678+64_1678+65insACCTACCGGACAGATGAACCCC
XM_011523829.1:c.1576+64_1576+65insACCTACCGGACAGATGAACCCC	XP_011522131.1:n.1576+64_1576+65insACCTACCGGACAGATGAACCCC
XM_011523830.1:c.1577-26_1577-25insACCTACCGGACAGATGAACCCC	XP_011522132.1:n.1577-26_1577-25insACCTACCGGACAGATGAACCCC
XR_934021.1:n.1782-26_1782-25insACCTACCGGACAGATGAACCCC
XR_934022.1:n.1688-26_1688-25insACCTACCGGACAGATGAACCCC
XR_934023.1:n.1687+64_1687+65insACCTACCGGACAGATGAACCCC
XM_006721516.3:c.1678+64_1678+65insACCTACCGGACAGATGAACCCC	XP_006721579.2:n.1678+64_1678+65insACCTACCGGACAGATGAACCCC
XM_011523829.2:c.1576+64_1576+65insACCTACCGGACAGATGAACCCC	XP_011522131.1:n.1576+64_1576+65insACCTACCGGACAGATGAACCCC
XM_011523830.2:c.1577-26_1577-25insACCTACCGGACAGATGAACCCC	XP_011522132.1:n.1577-26_1577-25insACCTACCGGACAGATGAACCCC
XM_024450741.1:c.1667-26_1667-25insACCTACCGGACAGATGAACCCC	XP_024306509.1:n.1667-26_1667-25insACCTACCGGACAGATGAACCCC
XR_934021.2:n.1734-26_1734-25insACCTACCGGACAGATGAACCCC
XR_934022.2:n.1640-26_1640-25insACCTACCGGACAGATGAACCCC
XR_934023.2:n.1639+64_1639+65insACCTACCGGACAGATGAACCCC
NM_000018.4:c.1679-26_1679-25insACCTACCGGACAGATGAACCCC MANE Select	NP_000009.1:n.1679-26_1679-25insACCTACCGGACAGATGAACCCC
NM_001033859.3:c.1613-26_1613-25insACCTACCGGACAGATGAACCCC	NP_001029031.1:n.1613-26_1613-25insACCTACCGGACAGATGAACCCC
NM_001270447.2:c.1748-26_1748-25insACCTACCGGACAGATGAACCCC	NP_001257376.1:n.1748-26_1748-25insACCTACCGGACAGATGAACCCC
NM_001270448.2:c.1451-26_1451-25insACCTACCGGACAGATGAACCCC	NP_001257377.1:n.1451-26_1451-25insACCTACCGGACAGATGAACCCC