Canonical Allele Identifier: CA2580094771

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1726263
• ClinVar RCV Id: RCV002307234
• gnomAD v4: 17-7220665-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220666del , CM000679.2:g.7220666del	GRCh38
NC_000017.10:g.7123985del , CM000679.1:g.7123985del	GRCh37
NC_000017.9:g.7064709del	NCBI36
NG_007975.1:g.5833del
NG_008391.2:g.4385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.267del MANE Select	ENSP00000349297.5:p.Tyr90ThrfsTer27
ENST00000322910.9:c.*222del	ENSP00000325395.5:n.*222del
ENST00000350303.9:c.201del	ENSP00000344152.5:p.Tyr68ThrfsTer27
ENST00000356839.9:c.267del	ENSP00000349297.5:p.Tyr90ThrfsTer27
ENST00000543245.6:c.336del	ENSP00000438689.2:p.Tyr113ThrfsTer27
ENST00000577191.5:n.344del
ENST00000577433.5:n.475del
ENST00000577857.5:n.229-100del
ENST00000578269.5:n.714del
ENST00000578421.1:n.475del
ENST00000579286.5:n.448del
ENST00000579886.2:c.201+140del	ENSP00000463246.1:n.201+140del
ENST00000580263.5:n.431del
ENST00000581562.5:n.314del
ENST00000582056.5:n.357del
ENST00000582166.1:n.155del
ENST00000582356.5:n.466del
ENST00000583312.5:c.267del	ENSP00000467920.1:p.Tyr90ThrfsTer27
ENST00000584103.5:c.267del	ENSP00000465353.1:p.Tyr90ThrfsTer?
NM_000018.3:c.267del	NP_000009.1:p.Tyr90ThrfsTer27
NM_001033859.2:c.201del	NP_001029031.1:p.Tyr68ThrfsTer27
NM_001270447.1:c.336del	NP_001257376.1:p.Tyr113ThrfsTer27
NM_001270448.1:c.39del	NP_001257377.1:p.Tyr14ThrfsTer27
XM_006721516.2:c.267del	XP_006721579.2:p.Tyr90ThrfsTer27
XM_011523829.1:c.267del	XP_011522131.1:p.Tyr90ThrfsTer27
XM_011523830.1:c.267del	XP_011522132.1:p.Tyr90ThrfsTer27
XR_934021.1:n.374del
XR_934022.1:n.374del
XR_934023.1:n.374del
XM_006721516.3:c.267del	XP_006721579.2:p.Tyr90ThrfsTer27
XM_011523829.2:c.267del	XP_011522131.1:p.Tyr90ThrfsTer27
XM_011523830.2:c.267del	XP_011522132.1:p.Tyr90ThrfsTer27
XM_024450741.1:c.267del	XP_024306509.1:p.Tyr90ThrfsTer27
XR_934021.2:n.326del
XR_934022.2:n.326del
XR_934023.2:n.326del
NM_000018.4:c.267del MANE Select	NP_000009.1:p.Tyr90ThrfsTer27
NM_001033859.3:c.201del	NP_001029031.1:p.Tyr68ThrfsTer27
NM_001270447.2:c.336del	NP_001257376.1:p.Tyr113ThrfsTer27
NM_001270448.2:c.39del	NP_001257377.1:p.Tyr14ThrfsTer27