Canonical Allele Identifier: CA2695199909

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2633650
• ClinVar RCV Id: RCV003391631

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220824_7220827delinsTTT , CM000679.2:g.7220824_7220827delinsTTT	GRCh38
NC_000017.10:g.7124143_7124146delinsTTT , CM000679.1:g.7124143_7124146delinsTTT	GRCh37
NC_000017.9:g.7064867_7064870delinsTTT	NCBI36
NG_007975.1:g.5991_5994delinsTTT
NG_008391.2:g.4224_4227delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.336_339delinsTTT MANE Select	ENSP00000349297.5:p.Phe113LeufsTer4
ENST00000322910.9:c.*291_*294delinsTTT	ENSP00000325395.5:n.*291_*294delinsTTT
ENST00000350303.9:c.270_273delinsTTT	ENSP00000344152.5:p.Phe91LeufsTer4
ENST00000356839.9:c.336_339delinsTTT	ENSP00000349297.5:p.Phe113LeufsTer4
ENST00000543245.6:c.405_408delinsTTT	ENSP00000438689.2:p.Phe136LeufsTer4
ENST00000577191.5:n.413_416delinsTTT
ENST00000577433.5:n.544_547delinsTTT
ENST00000577857.5:n.287_290delinsTTT
ENST00000579286.5:n.517_520delinsTTT
ENST00000579886.2:c.202-121_202-118delinsTTT	ENSP00000463246.1:n.202-121_202-118delinsTTT
ENST00000580365.1:n.67_70delinsTTT
ENST00000581378.5:c.35_38delinsTTT
ENST00000581562.5:n.383_386delinsTTT
ENST00000582056.5:n.426_429delinsTTT
ENST00000582166.1:n.224_227delinsTTT
ENST00000582356.5:n.535_538delinsTTT
ENST00000583312.5:c.336_339delinsTTT	ENSP00000467920.1:p.Phe113LeufsTer4
ENST00000584103.5:c.336_339delinsTTT	ENSP00000465353.1:p.Phe113LeufsTer15
NM_000018.3:c.336_339delinsTTT	NP_000009.1:p.Phe113LeufsTer4
NM_001033859.2:c.270_273delinsTTT	NP_001029031.1:p.Phe91LeufsTer4
NM_001270447.1:c.405_408delinsTTT	NP_001257376.1:p.Phe136LeufsTer4
NM_001270448.1:c.108_111delinsTTT	NP_001257377.1:p.Phe37LeufsTer4
XM_006721516.2:c.336_339delinsTTT	XP_006721579.2:p.Phe113LeufsTer4
XM_011523829.1:c.336_339delinsTTT	XP_011522131.1:p.Phe113LeufsTer4
XM_011523830.1:c.336_339delinsTTT	XP_011522132.1:p.Phe113LeufsTer4
XR_934021.1:n.443_446delinsTTT
XR_934022.1:n.443_446delinsTTT
XR_934023.1:n.443_446delinsTTT
XM_006721516.3:c.336_339delinsTTT	XP_006721579.2:p.Phe113LeufsTer4
XM_011523829.2:c.336_339delinsTTT	XP_011522131.1:p.Phe113LeufsTer4
XM_011523830.2:c.336_339delinsTTT	XP_011522132.1:p.Phe113LeufsTer4
XM_024450741.1:c.336_339delinsTTT	XP_024306509.1:p.Phe113LeufsTer4
XR_934021.2:n.395_398delinsTTT
XR_934022.2:n.395_398delinsTTT
XR_934023.2:n.395_398delinsTTT
NM_000018.4:c.336_339delinsTTT MANE Select	NP_000009.1:p.Phe113LeufsTer4
NM_001033859.3:c.270_273delinsTTT	NP_001029031.1:p.Phe91LeufsTer4
NM_001270447.2:c.405_408delinsTTT	NP_001257376.1:p.Phe136LeufsTer4
NM_001270448.2:c.108_111delinsTTT	NP_001257377.1:p.Phe37LeufsTer4