Canonical Allele Identifier: CA2580094864

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1994429
• ClinVar RCV Id: RCV002791130
• gnomAD v4: 17-7224643-TGAACAGTTTCTGCTGCAGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224645_7224664del , CM000679.2:g.7224645_7224664del	GRCh38
NC_000017.10:g.7127964_7127983del , CM000679.1:g.7127964_7127983del	GRCh37
NC_000017.9:g.7068688_7068707del	NCBI36
NG_007975.1:g.9812_9831del
NG_008391.2:g.388_407del
NG_033038.1:g.14882_14901del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1682_1701del MANE Select	ENSP00000349297.5:p.Glu561AlafsTer24
ENST00000322910.9:c.*1637_*1656del	ENSP00000325395.5:n.*1637_*1656del
ENST00000350303.9:c.1616_1635del	ENSP00000344152.5:p.Glu539AlafsTer24
ENST00000356839.9:c.1682_1701del	ENSP00000349297.5:p.Glu561AlafsTer24
ENST00000542255.6:c.537-70_537-51del
ENST00000543245.6:c.1751_1770del	ENSP00000438689.2:p.Glu584AlafsTer24
ENST00000578033.1:n.13_32del
ENST00000578319.5:n.263_282del
ENST00000578711.1:n.1141_1160del
ENST00000578809.5:n.254_273del
ENST00000579425.5:n.798_817del
ENST00000579546.1:c.417_436del
ENST00000583074.5:n.300-70_300-51del
ENST00000583848.5:c.65-17_67del
ENST00000583850.5:n.453_472del
ENST00000583858.5:c.613_632del
ENST00000585203.6:n.873_892del
NM_000018.3:c.1682_1701del	NP_000009.1:p.Glu561AlafsTer24
NM_001033859.2:c.1616_1635del	NP_001029031.1:p.Glu539AlafsTer24
NM_001270447.1:c.1751_1770del	NP_001257376.1:p.Glu584AlafsTer24
NM_001270448.1:c.1454_1473del	NP_001257377.1:p.Glu485AlafsTer24
XM_006721516.2:c.1679-70_1679-51del	XP_006721579.2:n.1679-70_1679-51del
XM_011523829.1:c.1577-70_1577-51del	XP_011522131.1:n.1577-70_1577-51del
XM_011523830.1:c.1580_1599del	XP_011522132.1:p.Glu527AlafsTer24
XR_934021.1:n.1785_1804del
XR_934022.1:n.1691_1710del
XR_934023.1:n.1688-70_1688-51del
XM_006721516.3:c.1679-70_1679-51del	XP_006721579.2:n.1679-70_1679-51del
XM_011523829.2:c.1577-70_1577-51del	XP_011522131.1:n.1577-70_1577-51del
XM_011523830.2:c.1580_1599del	XP_011522132.1:p.Glu527AlafsTer24
XM_024450741.1:c.1670_1689del	XP_024306509.1:p.Glu557AlafsTer24
XR_934021.2:n.1737_1756del
XR_934022.2:n.1643_1662del
XR_934023.2:n.1640-70_1640-51del
NM_000018.4:c.1682_1701del MANE Select	NP_000009.1:p.Glu561AlafsTer24
NM_001033859.3:c.1616_1635del	NP_001029031.1:p.Glu539AlafsTer24
NM_001270447.2:c.1751_1770del	NP_001257376.1:p.Glu584AlafsTer24
NM_001270448.2:c.1454_1473del	NP_001257377.1:p.Glu485AlafsTer24