Canonical Allele Identifier: CA2573154512

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1543840
• ClinVar RCV Id: RCV002172528
• dbSNP Id: rs2142959968

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220058_7220067del , CM000679.2:g.7220058_7220067del	GRCh38
NC_000017.10:g.7123377_7123386del , CM000679.1:g.7123377_7123386del	GRCh37
NC_000017.9:g.7064101_7064110del	NCBI36
NG_007975.1:g.5225_5234del
NG_008391.2:g.4984_4993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.62+12_62+21del MANE Select	ENSP00000349297.5:n.62+12_62+21del
ENST00000322910.9:c.74_83del	ENSP00000325395.5:p.Asp25AlafsTer?
ENST00000350303.9:c.62+12_62+21del	ENSP00000344152.5:n.62+12_62+21del
ENST00000356839.9:c.62+12_62+21del	ENSP00000349297.5:n.62+12_62+21del
ENST00000543245.6:c.132-64_132-55del	ENSP00000438689.2:n.132-64_132-55del
ENST00000577191.5:n.139+12_139+21del
ENST00000577857.5:n.152+12_152+21del
ENST00000578269.5:n.169+12_169+21del
ENST00000578421.1:n.133_142del
ENST00000579286.5:n.169+12_169+21del
ENST00000579886.2:c.62+12_62+21del	ENSP00000463246.1:n.62+12_62+21del
ENST00000580263.5:n.152+12_152+21del
ENST00000581562.5:n.109+12_109+21del
ENST00000582056.5:n.152+12_152+21del
ENST00000582356.5:n.187+12_187+21del
ENST00000583312.5:c.62+12_62+21del	ENSP00000467920.1:n.62+12_62+21del
ENST00000584103.5:c.62+12_62+21del	ENSP00000465353.1:n.62+12_62+21del
NM_000018.3:c.62+12_62+21del	NP_000009.1:n.62+12_62+21del
NM_001033859.2:c.62+12_62+21del	NP_001029031.1:n.62+12_62+21del
NM_001270447.1:c.132-64_132-55del	NP_001257376.1:n.132-64_132-55del
NM_001270448.1:c.-230_-221del	NP_001257377.1:n.-230_-221del
XM_006721516.2:c.62+12_62+21del	XP_006721579.2:n.62+12_62+21del
XM_011523829.1:c.62+12_62+21del	XP_011522131.1:n.62+12_62+21del
XM_011523830.1:c.62+12_62+21del	XP_011522132.1:n.62+12_62+21del
XR_934021.1:n.169+12_169+21del
XR_934022.1:n.169+12_169+21del
XR_934023.1:n.169+12_169+21del
XM_006721516.3:c.62+12_62+21del	XP_006721579.2:n.62+12_62+21del
XM_011523829.2:c.62+12_62+21del	XP_011522131.1:n.62+12_62+21del
XM_011523830.2:c.62+12_62+21del	XP_011522132.1:n.62+12_62+21del
XM_024450741.1:c.62+12_62+21del	XP_024306509.1:n.62+12_62+21del
XR_934021.2:n.121+12_121+21del
XR_934022.2:n.121+12_121+21del
XR_934023.2:n.121+12_121+21del
NM_000018.4:c.62+12_62+21del MANE Select	NP_000009.1:n.62+12_62+21del
NM_001033859.3:c.62+12_62+21del	NP_001029031.1:n.62+12_62+21del
NM_001270447.2:c.132-64_132-55del	NP_001257376.1:n.132-64_132-55del
NM_001270448.2:c.-230_-221del	NP_001257377.1:n.-230_-221del