Canonical Allele Identifier: CA774735275

Gene: ACADVL

Linked Data

• dbSNP Id: rs1219796569
• gnomAD v3: 17-7224972-CGA-C
• gnomAD v4: 17-7224972-CGA-C
• MyVariant Identifiers: chr17:g.7128292_7128293del (hg19) ; chr17:g.7224973_7224974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224976_7224977del , CM000679.2:g.7224976_7224977del	GRCh38
NC_000017.10:g.7128295_7128296del , CM000679.1:g.7128295_7128296del	GRCh37
NC_000017.9:g.7069019_7069020del	NCBI36
NG_007975.1:g.10143_10144del
NG_008391.2:g.77_78del
NG_033038.1:g.14571_14572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1847_1848del MANE Select	ENSP00000349297.5:p.Glu616GlyfsTer8
ENST00000322910.9:c.*1802_*1803del	ENSP00000325395.5:n.*1802_*1803del
ENST00000350303.9:c.1781_1782del	ENSP00000344152.5:p.Glu594GlyfsTer8
ENST00000356839.9:c.1847_1848del	ENSP00000349297.5:p.Glu616GlyfsTer8
ENST00000542255.6:c.726_727del
ENST00000543245.6:c.1916_1917del	ENSP00000438689.2:p.Glu639GlyfsTer8
ENST00000578033.1:n.272_273del
ENST00000578319.5:n.428_429del
ENST00000578711.1:n.1472_1473del
ENST00000578809.5:n.419_420del
ENST00000579425.5:n.963_964del
ENST00000583848.5:c.213_214del	ENSP00000466487.1:n.213_214del
ENST00000583850.5:n.618_619del
ENST00000583858.5:c.778_779del
NM_000018.3:c.1847_1848del	NP_000009.1:p.Glu616GlyfsTer8
NM_001033859.2:c.1781_1782del	NP_001029031.1:p.Glu594GlyfsTer8
NM_001270447.1:c.1916_1917del	NP_001257376.1:p.Glu639GlyfsTer8
NM_001270448.1:c.1619_1620del	NP_001257377.1:p.Glu540GlyfsTer8
XM_006721516.2:c.1868_1869del	XP_006721579.2:p.Glu623GlyfsTer8
XM_011523829.1:c.1766_1767del	XP_011522131.1:p.Glu589GlyfsTer8
XM_011523830.1:c.1745_1746del	XP_011522132.1:p.Glu582GlyfsTer8
XR_934021.1:n.1950_1951del
XR_934022.1:n.1856_1857del
XR_934023.1:n.1877_1878del
XM_006721516.3:c.1868_1869del	XP_006721579.2:p.Glu623GlyfsTer8
XM_011523829.2:c.1766_1767del	XP_011522131.1:p.Glu589GlyfsTer8
XM_011523830.2:c.1745_1746del	XP_011522132.1:p.Glu582GlyfsTer8
XM_024450741.1:c.1835_1836del	XP_024306509.1:p.Glu612GlyfsTer8
XR_934021.2:n.1902_1903del
XR_934022.2:n.1808_1809del
XR_934023.2:n.1829_1830del
NM_000018.4:c.1847_1848del MANE Select	NP_000009.1:p.Glu616GlyfsTer8
NM_001033859.3:c.1781_1782del	NP_001029031.1:p.Glu594GlyfsTer8
NM_001270447.2:c.1916_1917del	NP_001257376.1:p.Glu639GlyfsTer8
NM_001270448.2:c.1619_1620del	NP_001257377.1:p.Glu540GlyfsTer8