Canonical Allele Identifier: CA2695199908

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2680283
• ClinVar RCV Id: RCV003460275

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220658_7220671delinsT , CM000679.2:g.7220658_7220671delinsT	GRCh38
NC_000017.10:g.7123977_7123990delinsT , CM000679.1:g.7123977_7123990delinsT	GRCh37
NC_000017.9:g.7064701_7064714delinsT	NCBI36
NG_007975.1:g.5825_5838delinsT
NG_008391.2:g.4380_4393delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.259_272delinsT MANE Select	ENSP00000349297.5:p.Val87CysfsTer26
ENST00000322910.9:c.*214_*227delinsT	ENSP00000325395.5:n.*214_*227delinsT
ENST00000350303.9:c.193_206delinsT	ENSP00000344152.5:p.Val65CysfsTer26
ENST00000356839.9:c.259_272delinsT	ENSP00000349297.5:p.Val87CysfsTer26
ENST00000543245.6:c.328_341delinsT	ENSP00000438689.2:p.Val110CysfsTer26
ENST00000577191.5:n.336_349delinsT
ENST00000577433.5:n.467_480delinsT
ENST00000577857.5:n.229-108_229-95delinsT
ENST00000578269.5:n.706_719delinsT
ENST00000578421.1:n.467_480delinsT
ENST00000579286.5:n.440_453delinsT
ENST00000579886.2:c.201+132_201+145delinsT	ENSP00000463246.1:n.201+132_201+145delinsT
ENST00000580263.5:n.423_436delinsT
ENST00000581562.5:n.306_319delinsT
ENST00000582056.5:n.349_362delinsT
ENST00000582166.1:n.147_160delinsT
ENST00000582356.5:n.458_471delinsT
ENST00000583312.5:c.259_272delinsT	ENSP00000467920.1:p.Val87CysfsTer26
ENST00000584103.5:c.259_272delinsT	ENSP00000465353.1:p.Val87CysfsTer?
NM_000018.3:c.259_272delinsT	NP_000009.1:p.Val87CysfsTer26
NM_001033859.2:c.193_206delinsT	NP_001029031.1:p.Val65CysfsTer26
NM_001270447.1:c.328_341delinsT	NP_001257376.1:p.Val110CysfsTer26
NM_001270448.1:c.31_44delinsT	NP_001257377.1:p.Val11CysfsTer26
XM_006721516.2:c.259_272delinsT	XP_006721579.2:p.Val87CysfsTer26
XM_011523829.1:c.259_272delinsT	XP_011522131.1:p.Val87CysfsTer26
XM_011523830.1:c.259_272delinsT	XP_011522132.1:p.Val87CysfsTer26
XR_934021.1:n.366_379delinsT
XR_934022.1:n.366_379delinsT
XR_934023.1:n.366_379delinsT
XM_006721516.3:c.259_272delinsT	XP_006721579.2:p.Val87CysfsTer26
XM_011523829.2:c.259_272delinsT	XP_011522131.1:p.Val87CysfsTer26
XM_011523830.2:c.259_272delinsT	XP_011522132.1:p.Val87CysfsTer26
XM_024450741.1:c.259_272delinsT	XP_024306509.1:p.Val87CysfsTer26
XR_934021.2:n.318_331delinsT
XR_934022.2:n.318_331delinsT
XR_934023.2:n.318_331delinsT
NM_000018.4:c.259_272delinsT MANE Select	NP_000009.1:p.Val87CysfsTer26
NM_001033859.3:c.193_206delinsT	NP_001029031.1:p.Val65CysfsTer26
NM_001270447.2:c.328_341delinsT	NP_001257376.1:p.Val110CysfsTer26
NM_001270448.2:c.31_44delinsT	NP_001257377.1:p.Val11CysfsTer26