Canonical Allele Identifier: CA1139665157

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932833
• ClinVar RCV Id: RCV001200787
• dbSNP Id: rs2071393587
• ERepo: CA1139665157/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224647_7224648del , CM000679.2:g.7224647_7224648del	GRCh38
NC_000017.10:g.7127966_7127967del , CM000679.1:g.7127966_7127967del	GRCh37
NC_000017.9:g.7068690_7068691del	NCBI36
NG_007975.1:g.9814_9815del
NG_008391.2:g.404_405del
NG_033038.1:g.14898_14899del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1684_1685del MANE Select	ENSP00000349297.5:p.Gln562ValfsTer29
ENST00000322910.9:c.*1639_*1640del	ENSP00000325395.5:n.*1639_*1640del
ENST00000350303.9:c.1618_1619del	ENSP00000344152.5:p.Gln540ValfsTer29
ENST00000356839.9:c.1684_1685del	ENSP00000349297.5:p.Gln562ValfsTer29
ENST00000542255.6:c.537-68_537-67del
ENST00000543245.6:c.1753_1754del	ENSP00000438689.2:p.Gln585ValfsTer29
ENST00000578033.1:n.15_16del
ENST00000578319.5:n.265_266del
ENST00000578711.1:n.1143_1144del
ENST00000578809.5:n.256_257del
ENST00000579425.5:n.800_801del
ENST00000579546.1:c.419_420del
ENST00000582450.1:n.281_282del
ENST00000583074.5:n.300-68_300-67del
ENST00000583848.5:c.65-15_65-14del	ENSP00000466487.1:n.65-15_65-14del
ENST00000583850.5:n.455_456del
ENST00000583858.5:c.615_616del
ENST00000585203.6:n.875_876del
NM_000018.3:c.1684_1685del	NP_000009.1:p.Gln562ValfsTer29
NM_001033859.2:c.1618_1619del	NP_001029031.1:p.Gln540ValfsTer29
NM_001270447.1:c.1753_1754del	NP_001257376.1:p.Gln585ValfsTer29
NM_001270448.1:c.1456_1457del	NP_001257377.1:p.Gln486ValfsTer29
XM_006721516.2:c.1679-68_1679-67del	XP_006721579.2:n.1679-68_1679-67del
XM_011523829.1:c.1577-68_1577-67del	XP_011522131.1:n.1577-68_1577-67del
XM_011523830.1:c.1582_1583del	XP_011522132.1:p.Gln528ValfsTer29
XR_934021.1:n.1787_1788del
XR_934022.1:n.1693_1694del
XR_934023.1:n.1688-68_1688-67del
XM_006721516.3:c.1679-68_1679-67del	XP_006721579.2:n.1679-68_1679-67del
XM_011523829.2:c.1577-68_1577-67del	XP_011522131.1:n.1577-68_1577-67del
XM_011523830.2:c.1582_1583del	XP_011522132.1:p.Gln528ValfsTer29
XM_024450741.1:c.1672_1673del	XP_024306509.1:p.Gln558ValfsTer29
XR_934021.2:n.1739_1740del
XR_934022.2:n.1645_1646del
XR_934023.2:n.1640-68_1640-67del
NM_000018.4:c.1684_1685del MANE Select	NP_000009.1:p.Gln562ValfsTer29
NM_001033859.3:c.1618_1619del	NP_001029031.1:p.Gln540ValfsTer29
NM_001270447.2:c.1753_1754del	NP_001257376.1:p.Gln585ValfsTer29
NM_001270448.2:c.1456_1457del	NP_001257377.1:p.Gln486ValfsTer29