Canonical Allele Identifier: CA1139665160

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932176
• ClinVar RCV Id: RCV001199839
• dbSNP Id: rs2071395559
• ERepo: CA1139665160/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224693_7224696dup , CM000679.2:g.7224693_7224696dup	GRCh38
NC_000017.10:g.7128012_7128015dup , CM000679.1:g.7128012_7128015dup	GRCh37
NC_000017.9:g.7068736_7068739dup	NCBI36
NG_007975.1:g.9860_9863dup
NG_008391.2:g.355_358dup
NG_033038.1:g.14849_14852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1730_1733dup MANE Select	ENSP00000349297.5:p.Met578IlefsTer15
ENST00000322910.9:c.*1685_*1688dup	ENSP00000325395.5:n.*1685_*1688dup
ENST00000350303.9:c.1664_1667dup	ENSP00000344152.5:p.Met556IlefsTer15
ENST00000356839.9:c.1730_1733dup	ENSP00000349297.5:p.Met578IlefsTer15
ENST00000542255.6:c.537-22_537-19dup
ENST00000543245.6:c.1799_1802dup	ENSP00000438689.2:p.Met601IlefsTer15
ENST00000578033.1:n.61_64dup
ENST00000578319.5:n.311_314dup
ENST00000578711.1:n.1189_1192dup
ENST00000578809.5:n.302_305dup
ENST00000579425.5:n.846_849dup
ENST00000579546.1:c.465_468dup
ENST00000583074.5:n.300-22_300-19dup
ENST00000583848.5:c.96_99dup	ENSP00000466487.1:p.Gly34ProfsTer13
ENST00000583850.5:n.501_504dup
ENST00000583858.5:c.661_664dup
ENST00000585203.6:n.921_924dup
NM_000018.3:c.1730_1733dup	NP_000009.1:p.Met578IlefsTer15
NM_001033859.2:c.1664_1667dup	NP_001029031.1:p.Met556IlefsTer15
NM_001270447.1:c.1799_1802dup	NP_001257376.1:p.Met601IlefsTer15
NM_001270448.1:c.1502_1505dup	NP_001257377.1:p.Met502IlefsTer15
XM_006721516.2:c.1679-22_1679-19dup	XP_006721579.2:n.1679-22_1679-19dup
XM_011523829.1:c.1577-22_1577-19dup	XP_011522131.1:n.1577-22_1577-19dup
XM_011523830.1:c.1628_1631dup	XP_011522132.1:p.Met544IlefsTer15
XR_934021.1:n.1833_1836dup
XR_934022.1:n.1739_1742dup
XR_934023.1:n.1688-22_1688-19dup
XM_006721516.3:c.1679-22_1679-19dup	XP_006721579.2:n.1679-22_1679-19dup
XM_011523829.2:c.1577-22_1577-19dup	XP_011522131.1:n.1577-22_1577-19dup
XM_011523830.2:c.1628_1631dup	XP_011522132.1:p.Met544IlefsTer15
XM_024450741.1:c.1718_1721dup	XP_024306509.1:p.Met574IlefsTer15
XR_934021.2:n.1785_1788dup
XR_934022.2:n.1691_1694dup
XR_934023.2:n.1640-22_1640-19dup
NM_000018.4:c.1730_1733dup MANE Select	NP_000009.1:p.Met578IlefsTer15
NM_001033859.3:c.1664_1667dup	NP_001029031.1:p.Met556IlefsTer15
NM_001270447.2:c.1799_1802dup	NP_001257376.1:p.Met601IlefsTer15
NM_001270448.2:c.1502_1505dup	NP_001257377.1:p.Met502IlefsTer15