Canonical Allele Identifier: CA2635787172

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224999-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225000del , CM000679.2:g.7225000del	GRCh38
NC_000017.10:g.7128319del , CM000679.1:g.7128319del	GRCh37
NC_000017.9:g.7069043del	NCBI36
NG_007975.1:g.10167del
NG_008391.2:g.51del
NG_033038.1:g.14545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1871del MANE Select	ENSP00000349297.5:p.Asp624AlafsTer?
ENST00000322910.9:c.*1826del	ENSP00000325395.5:n.*1826del
ENST00000350303.9:c.1805del	ENSP00000344152.5:p.Asp602AlafsTer?
ENST00000356839.9:c.1871del	ENSP00000349297.5:p.Asp624AlafsTer?
ENST00000542255.6:c.750del
ENST00000543245.6:c.1940del	ENSP00000438689.2:p.Asp647AlafsTer?
ENST00000578033.1:n.296del
ENST00000578319.5:n.452del
ENST00000578711.1:n.1496del
ENST00000578809.5:n.443del
ENST00000579425.5:n.987del
ENST00000583848.5:c.237del	ENSP00000466487.1:n.237del
ENST00000583850.5:n.642del
ENST00000583858.5:c.802del
NM_000018.3:c.1871del	NP_000009.1:p.Asp624AlafsTer?
NM_001033859.2:c.1805del	NP_001029031.1:p.Asp602AlafsTer?
NM_001270447.1:c.1940del	NP_001257376.1:p.Asp647AlafsTer?
NM_001270448.1:c.1643del	NP_001257377.1:p.Asp548AlafsTer?
XM_006721516.2:c.1892del	XP_006721579.2:p.Asp631AlafsTer?
XM_011523829.1:c.1790del	XP_011522131.1:p.Asp597AlafsTer?
XM_011523830.1:c.1769del	XP_011522132.1:p.Asp590AlafsTer?
XR_934021.1:n.1974del
XR_934022.1:n.1880del
XR_934023.1:n.1901del
XM_006721516.3:c.1892del	XP_006721579.2:p.Asp631AlafsTer?
XM_011523829.2:c.1790del	XP_011522131.1:p.Asp597AlafsTer?
XM_011523830.2:c.1769del	XP_011522132.1:p.Asp590AlafsTer?
XM_024450741.1:c.1859del	XP_024306509.1:p.Asp620AlafsTer?
XR_934021.2:n.1926del
XR_934022.2:n.1832del
XR_934023.2:n.1853del
NM_000018.4:c.1871del MANE Select	NP_000009.1:p.Asp624AlafsTer?
NM_001033859.3:c.1805del	NP_001029031.1:p.Asp602AlafsTer?
NM_001270447.2:c.1940del	NP_001257376.1:p.Asp647AlafsTer?
NM_001270448.2:c.1643del	NP_001257377.1:p.Asp548AlafsTer?