Canonical Allele Identifier: CA8337811

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2852833
• ClinVar RCV Id: RCV003602475
• dbSNP Id: rs768471244
• ExAC: 17:7125331 TCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA / T
• gnomAD v2: 17-7125331-TCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA-T
• gnomAD v4: 17-7222012-TCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA-T
• MyVariant Identifiers: chr17:g.7125332_7125372del (hg19) ; chr17:g.7222013_7222053del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222015_7222055del , CM000679.2:g.7222015_7222055del	GRCh38
NC_000017.10:g.7125334_7125374del , CM000679.1:g.7125334_7125374del	GRCh37
NC_000017.9:g.7066058_7066098del	NCBI36
NG_007975.1:g.7182_7222del
NG_008391.2:g.2998_3038del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.686_726del MANE Select	ENSP00000349297.5:p.Arg229ProfsTer10
ENST00000322910.9:c.*641_*681del	ENSP00000325395.5:n.*641_*681del
ENST00000350303.9:c.620_660del	ENSP00000344152.5:p.Arg207ProfsTer10
ENST00000356839.9:c.686_726del	ENSP00000349297.5:p.Arg229ProfsTer10
ENST00000543245.6:c.755_795del	ENSP00000438689.2:p.Arg252ProfsTer10
ENST00000577191.5:n.763_803del
ENST00000577857.5:n.502_542del
ENST00000579286.5:n.867_907del
ENST00000580365.1:n.417_457del
ENST00000581378.5:c.404_444del
ENST00000582379.1:n.70_110del
ENST00000583760.1:n.468_508del
NM_000018.3:c.686_726del	NP_000009.1:p.Arg229ProfsTer10
NM_001033859.2:c.620_660del	NP_001029031.1:p.Arg207ProfsTer10
NM_001270447.1:c.755_795del	NP_001257376.1:p.Arg252ProfsTer10
NM_001270448.1:c.458_498del	NP_001257377.1:p.Arg153ProfsTer10
XM_006721516.2:c.686_726del	XP_006721579.2:p.Arg229ProfsTer10
XM_011523829.1:c.686_726del	XP_011522131.1:p.Arg229ProfsTer10
XM_011523830.1:c.686_726del	XP_011522132.1:p.Arg229ProfsTer10
XR_934021.1:n.793_833del
XR_934022.1:n.793_833del
XR_934023.1:n.793_833del
XM_006721516.3:c.686_726del	XP_006721579.2:p.Arg229ProfsTer10
XM_011523829.2:c.686_726del	XP_011522131.1:p.Arg229ProfsTer10
XM_011523830.2:c.686_726del	XP_011522132.1:p.Arg229ProfsTer10
XM_024450741.1:c.686_726del	XP_024306509.1:p.Arg229ProfsTer10
XR_934021.2:n.745_785del
XR_934022.2:n.745_785del
XR_934023.2:n.745_785del
NM_000018.4:c.686_726del MANE Select	NP_000009.1:p.Arg229ProfsTer10
NM_001033859.3:c.620_660del	NP_001029031.1:p.Arg207ProfsTer10
NM_001270447.2:c.755_795del	NP_001257376.1:p.Arg252ProfsTer10
NM_001270448.2:c.458_498del	NP_001257377.1:p.Arg153ProfsTer10